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1.
Am J Med Genet A ; 191(1): 265-270, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36282022

RESUMEN

Bruck syndrome is a rare collagen disorder with autosomal recessive inheritance caused by pathogenic variants in either FKBP10 or PLOD2 genes. It is characterized by bone fragility and fractures similar in severity and variability to osteogenesis-imperfecta as well as congenital joint contractures. This article describes an infant with a homozygous (partial) gene deletion of PLOD2 that includes the start codon and would be expected to lead to nonfunctional protein product. The infant had a severe phenotype of Bruck syndrome and is the only reported case of Bruck syndrome with congenital cardiac disease (triscuspid valve dysplasia with severe regurgitation, mitral valve prolapses with moderate regurgitation, and pulmonary hypertension) and pulmonary hemorrhage. We hypothesize that the additional feature of congenital cardiac disease in this case was due to the underlying defect in type I collagen, and that the pulmonary hemorrhage was multifactorial, with underlying vessel fragility, rib fractures, and high pulmonary pressures likely to be major contributing factors. Management was largely supportive with the use of bisphosphonates to assist in pain management. Care was complicated by comorbid cardiopulmonary compromise, limited evidence-base guiding care, and difficulties in discussing end-of-life care.


Asunto(s)
Artrogriposis , Cardiopatías Congénitas , Osteogénesis Imperfecta , Humanos , Osteogénesis Imperfecta/complicaciones , Osteogénesis Imperfecta/diagnóstico , Osteogénesis Imperfecta/genética , Artrogriposis/complicaciones , Artrogriposis/diagnóstico , Artrogriposis/genética , Fenotipo , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/genética , Hemorragia/diagnóstico , Hemorragia/genética
2.
BMC Public Health ; 23(1): 567, 2023 03 27.
Artículo en Inglés | MEDLINE | ID: mdl-36973707

RESUMEN

BACKGROUND: Neurogenic limb deformity disorder (NLDD) refers to limb deformity disorders caused by various neurogenic disorders. However, there are no studies to systematically summarize and analyze these diseases in China, and we first proposed the concept of NLDD. We describe the epidemiological characteristics of NLDD in China based on the largest case database of limb orthopedics in China. METHODS: This study analyzed parameters from the Qin Sihe Orthopedic Surgery Case Data (QSHOSCD). The database is based on the Rehabilitation Hospital affiliated to National Research Center for Rehabilitation, which has collected nearly 37,000 patients to date and includes a wide variety of limb deformities. The types of diseases are summarized and classified for all patients studied. Statistical analysis was based on the type of etiology, age, regional distribution, and historical surgical volume. Partial outcomes were statistically analyzed separately by common diseases (polio and cerebral palsy) and rare diseases (37 other diseases). RESULTS: From 1979 to 2019, 30,194 patients with NLDD were treated surgically for 39 neurogenic disorders. The male to female ratio was 1.48:1, the mean age was 19.65 years, and most patients (82.38%) were aged between 6 and 30 years. Patients included from 32 provinces and cities across China, mainly concentrated in populous central provinces and Heilongjiang Province. The peak of annual surgical procedures was from 1988 to 1994, and the number of annual surgical procedures for common diseases gradually decreased from 1994 onwards, but the trending is opposite for rare diseases. CONCLUSIONS: This study is the first to demonstrate the disease types, population characteristics and incidence trends of NLDD in China. It suggests that the prevention and treatment of NLDD should focus on the adolescent population and enhance the treatment of neurogenic diseases that cause limb deformities. The growth and adaption of the Ilizarov technique and its practice in Chinese orthopedic benefits the treatment of neurogenic limb deformity disorders.


Asunto(s)
Técnica de Ilizarov , Enfermedades Raras , Adolescente , Humanos , Masculino , Femenino , Niño , Adulto Joven , Adulto , China/epidemiología , Estudios Retrospectivos
3.
Arch Orthop Trauma Surg ; 143(11): 6685-6693, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37505270

RESUMEN

PURPOSE: Precise preoperative planning is mandatory when a double-level osteotomy (DLO) is required to correct a severe knee deformity. Literature does not report a validated planning method regarding DLO that could be performed directly on digital radiographs using simple measurement tools. This study aims to validate a novel DLO planning method called New Mikulicz-Joint Line (NM-JL) based on essential measurement tools, in which the correction angles are induced by the predicted post-operative joint line obliquity (JLO). METHODS: Twenty-three patients who satisfied the inclusion criteria were enrolled. NM-JL planning method was performed using basic measurement tools to detect corrective angles and gaps. The correction was then simulated using a Virtual Segmentation Software method to obtain the osteotomy fragments. Both planning procedures were performed independently and later repeated by two orthopaedic surgeons to assess the inter and intra-observer reliability. RESULTS: The intraclass correlation coefficient (ICC) regarding corrective angles and gaps showed a significant positive correlation between the values determined using the two procedures by both raters (p < 0.05). Pearson's correlation analysis revealed a significant correlation between the measured results of the two planning methods. (p < 0.05). Finally, the Bland-Altman analysis showed an excellent agreement (p < 0.05) for all measurements performed. CONCLUSIONS: The NM-JL method showed high values of intra and inter-rater reliability. The procedure is built up starting from the predicted value of post-operative joint line obliquity, allowing to maintain this parameter fixed. Other advantages include the quickness, adaptability, and possibility to be performed on any Digital Imaging and Communication in Medicine (DICOM) viewer. LEVEL OF EVIDENCE: Level IV.


Asunto(s)
Articulación de la Rodilla , Osteoartritis de la Rodilla , Humanos , Reproducibilidad de los Resultados , Articulación de la Rodilla/diagnóstico por imagen , Articulación de la Rodilla/cirugía , Programas Informáticos , Osteotomía/métodos , Osteoartritis de la Rodilla/cirugía , Tibia/cirugía
4.
N Z Vet J ; 71(1): 42-48, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-35711117

RESUMEN

CASE HISTORY: Three different farms reported cases of angular limb deformities (ALD) in rising 2-year-old velvet, mostly red deer (Cervus elaphus), stags with the earliest recorded cases occurring in 2010. Farm 1 reported a prevalence of 10-35%, farm 2, 5-11.5%, and farm 3, 2-5%. Farms 1, 2, and 3 are located in South Canterbury, northern Southland, and the Waikato, respectively. CLINICAL FINDINGS: Affected animals developed ALD, with predominantly varus forelimb (bowed) deformities. On all farms serum calcium and phosphorus concentrations in affected animals were normal. Serum and liver copper concentrations were variable across the period of the study and between farms. Although some measurements were below the reference ranges, there was no evidence for a statistical association with the prevalence of abnormalities. PATHOLOGICAL FINDINGS: The distal radius from 25 affected and four control red and red-wapiti (Cervus canadensis) cross deer from Farm 1 in 2010/2011, two affected red deer from Farm 2 in 2016, and one affected red deer from Farm 3 in 2021, were examined. The most consistent lesions were present in the distal radial physis, most commonly the lateral edge. There was mild-to-severe segmental thickening of the physis and, in some animals, physeal cartilage was duplicated with both sections of physis varying in thickness. Microscopically, in severely affected animals there was massive segmental thickening of physeal cartilage which often contained large cystic cavities. The cartilage matrix was eosinophilic and showed a loss of metachromatic staining with toluidine blue. In less severe cases, necrotic physeal vessels were present, consistent with vascular failure. In more chronic cases, there was duplication of the physis, the two layers being separated by a combination of normal trabecular bone and dense fibrous connective tissue. DIAGNOSIS: Physeal osteochondrosis. CLINICAL RELEVANCE: Osteochondrosis has a multifactorial aetiology and we propose that an increased requirement for nutrients for velvet production and increased weight-bearing stress (behaviour and rapid weight gain) may lead to progression of osteochondrosis and ALD in these deer. The involvement of periods of copper deficiency is unclear at this time.


Asunto(s)
Ciervos , Osteocondrosis , Animales , Granjas , Radio (Anatomía)/patología , Cobre , Nueva Zelanda/epidemiología , Osteocondrosis/epidemiología , Osteocondrosis/etiología , Osteocondrosis/veterinaria
5.
J Orthop Traumatol ; 24(1): 35, 2023 Jul 04.
Artículo en Inglés | MEDLINE | ID: mdl-37402946

RESUMEN

BACKGROUND: Intramedullary nailing (IN) seems to be the best primary surgical treatment for patients with either polyostotic fibrous dysplasia or McCune-Albright syndrome (PFD/MAS) when the femur and tibia are totally affected by fibrous dysplasia (FD) and pain, fracture and deformity are likely to occur. However, other management protocols have been applied in these cases, often leading to disabling sequelae. This study sought to evaluate if IN could also have been effective as a salvage procedure to provide patients with satisfactory results, regardless of the poor results due to the improper treatment previously performed. MATERIALS AND METHODS: Twenty-four retrospectively registered PFD/MAS patients with 34 femurs and 14 tibias totally affected by fibrous dysplasia had received various treatments with unsatisfactory results in other institutions. Before the IN performed in our hospital, 3 patients were wheelchair bound; 4 were fractured; 17 limped; and many used an aid for walking. Salvage IN was performed in our hospital at a mean patient age of 23.66 ± 6.06 years (range, 15-37 years). The patients were evaluated before-except for the four fractured ones-and after IN using the validated Jung scoring system, and the data were statistically analyzed. RESULTS: The mean length of follow-up after IN was 9.12 ± 3.68 years (range, 4-17 years). The patients' mean Jung score significantly improved from 2.52 ± 1.74 points before IN to 6.78 ± 2.23 at follow-up (p < 0.05). Ambulation was improved in ambulatory patients and restored in wheelchair users. The complication rate was 21%. CONCLUSIONS: Regardless of the high rate of complications, IN may be considered a reliable surgical procedure to salvage a failed treatment in PFD/MAS, with long-lasting satisfactory results achieved in most patients. Trial registration statement: Not applicable. LEVEL OF EVIDENCE: IV.


Asunto(s)
Displasia Fibrosa Poliostótica , Fijación Intramedular de Fracturas , Fracturas Óseas , Adolescente , Adulto , Humanos , Adulto Joven , Fémur , Displasia Fibrosa Poliostótica/cirugía , Displasia Fibrosa Poliostótica/complicaciones , Extremidad Inferior
6.
Foot Ankle Surg ; 28(5): 622-627, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34274238

RESUMEN

BACKGROUND: This study compares outcomes of patients with severe, multiplanar, fixed, pantalar deformities undergoing limb preservation with either pantalar fusion (PTF) or talectomy and tibiocalcaneal fusion (TCF), versus below knee amputation (BKA). METHODS: Fifty-one patients undergoing either PTF, TCF and BKA for failed management of severe pantalar deformity were evaluated retrospectively. Twenty-seven patients underwent PTF, 8 TCF and 16 BKA. Median age at surgery was 55.0 years (17-72 years) and median follow-up duration was 49.9 months (24.0-253.7 months). Clinical evaluation was undertaken using the MOxFQ, EQ-5D and Special Interest Group in Amputee Medicine score (SIGAM). Patients were also asked whether they were satisfied with their surgery and whether they would have the same surgery again. RESULTS: There was no statistically significant difference in functional outcomes, satisfaction, or complications between the groups. Twenty-two patients undergoing PTF (81.5%), 6 patients undergoing TCF (75%), and 15 patients undergoing BKA (93.8%) were satisfied overall (p = 0.414). There was no difference in the proportion of patients who would opt for the same procedure again (p = 0.142): 23 in the PTF group (85.2%), 8 in the TCF group (100%), and 11 in the BKA group (68.8%). Seven patients undergoing PTF (25.9%), 2 patients undergoing TCF (25%) and 6 patients undergoing BKA (37.5%) had major complications (p = 0.692). CONCLUSION: This study concludes that PTF, TCF and BKA can all provide an acceptable outcome in treatment of severe, degenerative pantalar deformities. This data may be useful in counselling patients when considering salvage versus amputation in such cases. LEVEL OF EVIDENCE: Level 3(Original) Clinical Research Article.


Asunto(s)
Amputación Quirúrgica , Recuperación del Miembro , Adulto , Humanos , Extremidad Inferior , Estudios Retrospectivos , Resultado del Tratamiento
7.
Eur J Orthop Surg Traumatol ; 32(6): 1179-1186, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34392444

RESUMEN

PURPOSE: To evaluate the outcomes of a novel percutaneous medial supracondylar femoral osteotomy and above-knee cast technique in children and adolescents as a minimally invasive surgical intervention for treatment of genu valgum. METHODS: In this prospective study, 60 patients (70 knees) with a tibiofemoral angle more than 15° were treated with a novel medial percutaneous supracondylar femoral osteotomy and above-knee cast and followed up for an average of 29 months. The radiological outcome was measured with MAD, TFA, and mLDFA. The functional outcome was evaluated by a modified Böstman score. RESULTS: The preoperative mean MAD, TFA, and mLDFA were 2.9 cm, 16.3°, and 79.2° respectively. The Böstman score averaged preoperatively 23.1. There was a significant improvement of all radiological and clinical outcome measures (P < 0.001). Per Böstman score, 2 knees in one patient (3%) showed an unsatisfactory result, while 14 (20%) and 54 (77%) knees had a good or excellent result, respectively. Two patients (three limbs) needed early re-casting. Other complications were not encountered. CONCLUSION: In experienced hands, percutaneous transverse metaphyseal femoral osteotomy and above-knee casting appear to be a safe, supracondylar cost-effective, and reliable minimally invasive acute correction technique in genu valgum in children and adolescents. LEVEL OF EVIDENCE: Level IV-therapeutic.


Asunto(s)
Genu Valgum , Adolescente , Niño , Fémur/diagnóstico por imagen , Fémur/cirugía , Genu Valgum/complicaciones , Genu Valgum/cirugía , Humanos , Articulación de la Rodilla/diagnóstico por imagen , Articulación de la Rodilla/cirugía , Osteotomía/métodos , Estudios Prospectivos
8.
Health Qual Life Outcomes ; 19(1): 139, 2021 May 05.
Artículo en Inglés | MEDLINE | ID: mdl-33952260

RESUMEN

BACKGROUND: To develop a priority-based patient/parent reported outcome measure for children with lower-limb differences (LD) by adapting the Gait Outcomes Assessment List (GOAL) questionnaire. METHODS: Guided by a conceptual framework of patient priorities, the GOAL questionnaire was iteratively modified and its sensibility evaluated by field-testing it on children with LD, and their parents. Cognitive interviews were conducted with a subgroup of these children, and an e-survey administered to a multidisciplinary group of health care professionals with expertise in paediatric LD. Findings were integrated to create the final version of the GOAL-LD. RESULTS: Twenty-five children (9-18 years), 20 parents, and 31 healthcare professionals evaluated the content and sensibility of the GOAL, with an emphasis on the relevance and importance of the items to patients' health related quality of life (HRQL). This resulted in the retention of 26 of the original 50 items, elimination of 12, modification of 12, and addition of seven new items. The new 45-item GOAL-LD questionnaire was shown to be sensible, and its content deemed important. CONCLUSIONS: The GOAL-LD questionnaire has a high level of face and content validity, and sensibility. It comprehensively captures the HRQL goals and outcomes that matter to children with LD and their parents. Following further psychometric evaluation, the GOAL-LD may serve as a much needed patient and parent reported outcome measure for this population.


Asunto(s)
Marcha/fisiología , Personal de Salud/psicología , Extremidad Inferior/fisiología , Padres/psicología , Calidad de Vida/psicología , Encuestas y Cuestionarios/normas , Evaluación de Síntomas/normas , Adolescente , Adulto , Niño , Femenino , Personal de Salud/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Medición de Resultados Informados por el Paciente , Psicometría/normas , Psicometría/estadística & datos numéricos , Encuestas y Cuestionarios/estadística & datos numéricos , Evaluación de Síntomas/estadística & datos numéricos , Adulto Joven
9.
BMC Surg ; 20(1): 195, 2020 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-32883265

RESUMEN

BACKGROUND: The windswept lower limb deformity describes valgus deformity in one leg with varus deformity in the other. It is mostly seen in young children with metabolic bone diseases (such as rickets) and may lead to leg length discrepancy (LLD) and Degenerative scoliosis (DS) in older age. To the best of our knowledge, there was no report of the spinal surgery in patient with severe DS associated with windswept deformity. The objective of this study is to report the unique case of a 60-year-old woman with severe degenerative scoliosis (DS) associated with windswept deformity caused by rickets who underwent a posterior correction and fusion surgery in spine. CASE PRESENTATION: The patient was diagnosed as rickets windswept lower limb deformity for 50 years but never went through routine treatment. Then, she performed lumbar scoliosis for more than 20 years and suffered from severe back pain for 4 years. After overall clinical evaluation and radiographic measures, we performed a posterior surgical correction and fusion from T9-L5. With this surgery, the main thoracolumbar curve Cobb angle corrected from 72.5° to 21.0°, the coronal balance from 0 cm to 2.0 cm while the sagittal vertical axis (SVA) from 1.5 cm to - 1.0 cm. At 2 years postoperative follow-up, her back pain has almost completely relieved with a satisfied fixation and bone fusion showed on CT scans. However, a coronal imbalance was found with C7-CSVLdistance equal to 4.0 cm. This coronal imbalance was highly correlated to the untreated LLD and pelvic obliquity, and should be improved by standing posture or shoe lifts. CONCLUSIONS: For such patient, the pure spinal correction and fusion surgery, in spite of lower limbs deformity, can achieve good relieve of back pain symptom, however may accompany by the complication of coronal imbalance due to the unimproved pelvic obliquity and LLD. However, longer follow-up is necessary to observe the long-term outcome of this patient's postoperative coronal imbalance.


Asunto(s)
Escoliosis/cirugía , Fusión Vertebral , Anciano , Niño , Preescolar , Femenino , Humanos , Extremidad Inferior , Vértebras Lumbares/diagnóstico por imagen , Vértebras Lumbares/cirugía , Persona de Mediana Edad , Estudios Retrospectivos , Escoliosis/complicaciones , Resultado del Tratamiento
10.
Vet Pathol ; 56(5): 732-742, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31060473

RESUMEN

Articular osteochondrosis (OC) arises due to vascular failure and ischemic chondronecrosis. The aim of the study was to describe the histological and computed tomographic (CT) characteristics of changes in the distal femoral physis of pigs, to determine if they represented OC lesions and if the pathogenesis was the same as for articular OC. The material included 19 male Landrace pigs bred for predisposition to OC. One or 2 pigs were euthanized and CT-scanned at 2-week intervals from 82 to 180 days of age. Material from 10 pigs was available for histological validation. The CT scans revealed 31 lesions confirmed in 3 planes and 1 additional macroscopically visible lesion confirmed in 2 CT planes. Twelve of the lesions were histologically validated. All lesions were compatible with OC. Cartilage canal and eosinophilic streak morphological changes corresponded to failure of end arteries coursing from the epiphysis, toward the metaphysis. The location of lesions was compatible with failure at the point of vessel incorporation into bone. Vascular failure was associated with retention of viable hypertrophic chondrocytes and delayed ossification but not cartilage necrosis. Lesion width ranged from 1.1% to 45.6% of the physis. Several lesions were expected to resolve due to small size and evidence of CT-identifiable, reparative ossification. Angular limb deformity was not detected in any pig. The pathogenesis of physeal OC started with vascular failure that was morphologically identical to articular OC. The heritable predisposition may therefore be the same. The association between lesions and limb deformity should be studied further in older pigs in future.


Asunto(s)
Cartílago Articular/irrigación sanguínea , Placa de Crecimiento/irrigación sanguínea , Osteocondrosis/veterinaria , Enfermedades de los Porcinos/patología , Animales , Huesos/patología , Cartílago Articular/patología , Fémur/patología , Placa de Crecimiento/patología , Masculino , Osteocondrosis/patología , Porcinos , Enfermedades de los Porcinos/etiología
11.
Vet Clin North Am Equine Pract ; 33(2): 353-366, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28687095

RESUMEN

Angular limb deformities are common in foals; however, the importance of the deformity and if treatment is required depend on the degree of deformity relative to normal conformation for stage of growth, the breed and discipline expectations, age, and response to conservative therapies. This article addresses the importance of the foal conformation examination to determine which foals need surgical intervention to correct an angular deformity and when. Techniques for surgical growth retardation include the transphyseal staple, screw and wire transphyseal bridge, and transphyseal screw. Appropriate timing for intervention for each location and complications associated with each procedure are discussed.


Asunto(s)
Equidae , Enfermedades de los Caballos/cirugía , Deformidades Congénitas de las Extremidades/veterinaria , Animales , Animales Recién Nacidos , Tornillos Óseos/veterinaria , Hilos Ortopédicos/veterinaria , Epífisis/crecimiento & desarrollo , Epífisis/cirugía , Enfermedades de los Caballos/diagnóstico , Caballos , Deformidades Congénitas de las Extremidades/complicaciones , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/cirugía , Suturas/veterinaria , Tarso Animal/anomalías , Tarso Animal/cirugía
12.
Vet Clin North Am Equine Pract ; 33(2): 267-288, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28551288

RESUMEN

Hoof care in the first few months of life is serious business and should never be taken lightly. Farriery plays a vital role in both the development of the hoof and the conformation of the limb. Management of the feet and limbs during this period will often dictate the success of the foal as a sales yearling or mature sound athlete. A sound foot care program is time-consuming, whereas assembly-line trimming is quick and easy, but the former is much more beneficial.


Asunto(s)
Pezuñas y Garras/cirugía , Enfermedades de los Caballos/terapia , Caballos/cirugía , Técnicos de Animales/normas , Animales , Animales Recién Nacidos/crecimiento & desarrollo , Animales Recién Nacidos/cirugía , Dieta/normas , Dieta/veterinaria , Extremidades/diagnóstico por imagen , Extremidades/cirugía , Pezuñas y Garras/diagnóstico por imagen , Pezuñas y Garras/crecimiento & desarrollo , Enfermedades de los Caballos/diagnóstico por imagen , Enfermedades de los Caballos/prevención & control , Caballos/crecimiento & desarrollo , Inestabilidad de la Articulación/terapia , Inestabilidad de la Articulación/veterinaria , Deformidades Congénitas de las Extremidades/terapia , Deformidades Congénitas de las Extremidades/veterinaria , Registros/veterinaria , Tendones/fisiopatología , Medicina Veterinaria/métodos
13.
Am J Med Genet A ; 170(6): 1622-5, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-27041388

RESUMEN

Complex Camptosynpolydactyly is an autosomal recessive disorder characterized by complex hand deformities described earlier by us in a consanguineous family. We report on identification of mutations in BHLHA9 gene in this condition. Our results indicate that Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) are likely to be allelic disorders. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Alelos , Dedos/anomalías , Deformidades Congénitas del Pie/diagnóstico , Deformidades Congénitas del Pie/genética , Estudios de Asociación Genética , Deformidades Congénitas de la Mano/diagnóstico , Deformidades Congénitas de la Mano/genética , Mutación , Sinostosis/genética , Dedos del Pie/anomalías , Secuencia de Aminoácidos , Consanguinidad , Femenino , Genotipo , Humanos , Recién Nacido , Análisis de Secuencia por Matrices de Oligonucleótidos , Linaje , Polidactilia , Polimorfismo de Nucleótido Simple , Radiografía , Sindactilia/genética , Sinostosis/diagnóstico
14.
J Obstet Gynaecol Res ; 42(8): 1016-20, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-27087030

RESUMEN

Agnathia-otocephaly or agnathia-sinotia-microstomy syndrome is the most severe malformation affecting the first branchial arch. It is a rare congenital anomaly characterized by absence of the lower jaw and abnormal ear positioning. Prenatal diagnosis is possible on conventional 2-D ultrasound in the second trimester. Three-dimensional ultrasound enhances detection of abnormal facial phenotype, especially in surface rendering mode. In addition, 3-D volume datasets are used to produce a physical model of the anomaly. We present a case of second trimester ultrasound diagnosis of agnathia-otocephaly associated with limb deformities. A physical model produced using 3-D ultrasound volume datasets facilitated better understanding of this congenital malformation, and improvement of parental counselling and management by the multispecialist team.


Asunto(s)
Anomalías Craneofaciales/diagnóstico por imagen , Exposición Materna , Descongestionantes Nasales/efectos adversos , Oximetazolina/efectos adversos , Ultrasonografía Prenatal/métodos , Adulto , Región Branquial/anomalías , Región Branquial/diagnóstico por imagen , Femenino , Peroné/anomalías , Peroné/diagnóstico por imagen , Dedos/anomalías , Dedos/diagnóstico por imagen , Humanos , Interpretación de Imagen Asistida por Computador , Imagenología Tridimensional/métodos , Embarazo , Primer Trimestre del Embarazo/efectos de los fármacos , Segundo Trimestre del Embarazo , Cúbito/anomalías , Cúbito/diagnóstico por imagen
15.
J Zoo Wildl Med ; 46(3): 609-12, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26352971

RESUMEN

A 2-yr-old neutered male pet serval (Felis serval) was presented for progressive hind limb lameness that started at 6 mo of age. Previous therapy included only nutritional supplementation. Direct and video gait analysis confirmed bilateral hind limb lameness, more severe on the right. Physical examination and radiography revealed a multifocal complex bilateral angular deformity with a significant rotational component. A right tibial corrective osteotomy was followed by internal rotation and stabilization with a 2.7-mm eight-hole locking compression plate and locking screws. Other deformities were not corrected. Clinical improvement was noted immediately and has been maintained over the 16-mo follow-up.


Asunto(s)
Felis , Miembro Posterior/anomalías , Deformidades Congénitas de las Extremidades/veterinaria , Animales , Miembro Posterior/cirugía , Deformidades Congénitas de las Extremidades/patología , Deformidades Congénitas de las Extremidades/cirugía , Masculino
16.
Cureus ; 16(3): e56331, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38628990

RESUMEN

Purpose When treating limb length discrepancy (LLD), decisions regarding lengthening versus contralateral shortening require careful consideration of deformity and patient factors. Using the National Longitudinal Survey of Youth 1979 (NLSY79) database, and income as a quantitative representation of overall socioeconomic benefit, we sought to determine the height at which incremental gains in height have the greatest value. Methods Using the NLSY79 database, we collected demographic data, height, yearly income from wages, college education (full- or part-time), and receipt of government financial aid. Multiple-linear regression and graphical analysis were performed. Results The study population included 9,652 individuals, 4,775 (49.5%) males and 4,877 (50.5%) females. Mean heights were 70.0±3.0 inches and 64.3±2.6 inches for males and females, respectively. Multiple-linear regression analysis (adjusted-r²=0.33) demonstrated height had a standardized-ß=0.097 (p<0.001), even when accounting for confounding factors. Using graphical analysis, we estimated cut-offs of 74 inches for males and 69 inches for females, beyond which income decreased with incremental height. Conclusions Using income as a quantitative representation of socioeconomic value, our analysis found income increased with incremental height in individuals with predicted heights up to 74 inches for males and 69 inches for females. Shortening procedures might receive more consideration at predicted heights greater than these cut-offs, while lengthening might be more strongly considered at the lower ranges of height. Additionally, our multiple-linear regression analysis confirms the correlation between height and income, when factoring in other predictors of income.

17.
Front Pediatr ; 12: 1332531, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38440186

RESUMEN

Objective: Malformations of the lower limbs caused by hypophosphatemic rickets in older children are mostly complex, occurring on multiple planes without a single apex and showing arcuate bending of the diaphysis combined with torsion deformity, and are difficult to correct. This study retrospectively investigated the effect of and indicators for multi-segment osteotomy with interlocking intramedullary nail fixation in the treatment of bony deformity caused by hypophosphatemic rickets. Methods: The clinical data of 21 hypophosphatemic rickets patients seen between August 2007 and March 2022 were collected. The age range of the patients at the first surgery was 11 years and 1 month old to 15 years and 3 months old, with an average age of 12 years and 8 months. There were 6 males and 15 females. All patients had abnormal alignment of their lower limbs, with 32 limbs having varus deformity and 10 limbs having valgus deformity. Results: A total of 67 surgeries were performed across the 21 patients, including 24 cases of femoral osteotomy with antegrade intramedullary nail fixation, 6 cases of femoral osteotomy with retrograde intramedullary nail fixation, and 20 cases of tibial osteotomy with interlocking intramedullary nail fixation. A total of 34 limbs eventually underwent interlocking intramedullary nail fixation, 9 with genu valgum and 25 with genu varus. All 21 patients were followed up for a period of 14∼96 months, with an average of 42.6 months. The ends of the osteotomies achieved bony union in 4-9 months (average 6.8 months), after which normal weight-bearing walking could be resumed. No infection, vascular or neurological complications, or nonunion occurred. During postoperative follow-up, the alignment the lower limbs passed through zone 1 in 13 limbs, zone 2 in 12 limbs, and zone 3 in 5 limbs. The overall rate of an excellent effect was 83.3%. Conclusion: For lower limb deformity caused by hypophosphatemic rickets in older children, multi-segment osteotomy and strong fixation with interlocking intramedullary nails can achieve good correction outcomes.

18.
Cureus ; 16(4): e59292, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38813268

RESUMEN

Background Optimal lateral ankle imaging is important for the diagnosis and treatment of multiple ankle conditions. The effects of limb deformity on lateral ankle imaging are not well described and are clarified in this osteological study. Materials and methods We utilized an osteological collection and imaged all specimens after the first positioning of the talus in the lateral position and positioning the tibia and fibula to match. We then measured the relative positions of the tibia and fibula and their widths to calculate standard ratios. All measurements were evaluated for reliability using intra-class correlation coefficients. Multiple regression analysis determined how patient characteristics, tibial torsion, and medial proximal tibial angle affected various lateral ankle imaging ratios. Results The intra-class correlation coefficient was excellent for all measurements. In the multiple regression analysis, all five imaging ratios had at least one statistically significant outcome. The anterior tibiofibular interval (ATFI)-tibial width (TW) ratio (ATFI:TW) had only one association with sex and had the lowest standard deviation. All other parameters had variation with tibial torsion and/or medial proximal tibia angle (MPTA). The mean ATFI was 1.06 ± 0.21 cm and 1.19 ± 0.23 cm for females and males, respectively. Conclusions Patient sex and tibial torsion impacted the fidelity of lateral imaging parameters. ATFI:TW may pose the greatest utility given its minimal association with deformity parameters and low standard deviation.

19.
Cureus ; 16(4): e59026, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38800175

RESUMEN

Limb body wall complex (LBWC), also known as body stalk anomaly, is a rare and lethal disorder of the anterior abdominal wall. It is characterized by a severe combination of congenital malformations in the fetus, including, abdomino- and/or thoracoschisis, exencephaly/encephalocele, limb deformities, and facial clefts. Short umbilical cord, abdominal placental attachment, and spinal anomalies are among other manifestations of this disorder. The cause of LBWC is still unknown. The main hypotheses include embryonic dysplasia, early amniotic rupture, and vascular accident during embryonic development. We present a case of LBWC that was detected prenatally on ultrasound (USG) imaging and later confirmed postnatally in a Rh-negative mother at the menstrual age of 14 weeks.

20.
Orthop Surg ; 2024 Sep 07.
Artículo en Inglés | MEDLINE | ID: mdl-39243193

RESUMEN

OBJECTIVE: The principles of limb reconstruction are crucial for treatment success, but there is no unified standard for complex limb deformities. The aim of this study was to analyze the characteristics of the cases of post-traumatic lower limb deformity and explore the new principle of limb reconstruction. METHOD: A retrospective analysis was conducted of 148 patients with post-traumatic lower limb deformity who underwent surgery from May 1978 to December 2023; 85 were males (57.4%) and 63 were females (42.6%); 65 cases of left side (43.9%), 79 cases of right side(53.4%), and 4 cases were on both sides (2.7%), the average age was 24.64 years (5-69). There were 4 cases suffering hip deformities, 40 cases of femoral deformities, 18 cases from knee, 40 cases from tibiofibular, 93 cases of foot and ankle deformities, and some patients also had two or more types. All patients underwent surgical intervention in an average of 40.5 months (12-96) after injury. According to the evaluation of limb deformities, deformity correction and functional reconstruction with external fixation were implemented, following the principle of "one walking, two lines, and three balances." The clinical evaluation adopts the criteria of Qinsihe lower limb deformity correction and functional reconstruction. RESULT: 148 patients with post-traumatic lower limb deformities were followed up for 40.9 (12-356) months. The main surgical procedures implemented were tendon lengthening and soft tissue release (84 cases), osteotomy (93 cases), joint fusion (30 cases), and tendon transposition (16 cases); there were multiple surgical procedures in some patients. Among them, 124 cases used external fixators for stress control and 27 cases used internal fixation, while 3 cases used plaster or brace. There were 5 wire reactions postoperatively, which improved after dressing change and oral antibiotics. There were 2 pin infections, which improved by pin removing. No surgical related deep infections occurred, and no surgical related neurovascular damage occurred. At the last follow-up, all limb deformities were corrected, limb function improved, and the results of treatment was very satisfactory. According to Qinsihe evaluation criteria for lower limb deformities, 74 cases were excellent, 56 cases good, and 18 cases fair, with an excellent and good rate of 87.84%. CONCLUSION: Stress control with external fixation is effective, safe, and controllable in correcting and reconstructing post-traumatic lower limb deformities. The principle of "one walking, two lines, and three balances" plays an important role in the entire process of stress control limb reconstruction.

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