RESUMEN
OBJECTIVE: To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Bardet-Biedl syndrome (BBS). METHODS: This was a retrospective study of 11 cases with BBS diagnosed by prenatal ultrasound and confirmed by genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, molecular testing sequencing results, and pregnancy outcomes. RESULTS: All cases had unremarkable first-trimester ultrasound scans without reporting limb malformations. All had second-trimester abnormal ultrasounds: postaxial polydactyly in nine cases (9/11), renal abnormalities in seven (7/11), reduced amniotic fluid volume in two (2/11), central nervous system anomalies in two (2/11), and ascites in three (3/11). Ten fetuses presented with at least two-system anomalies, and one (Case 11) presented with only postaxial polydactyly. Variants were detected in five genes, including BBS2, ARL6/BBS3, BBS7, CEP290/BBS14 and IFT74/BBS22. Ten pregnancies were terminated in the second trimester, while one continued to term. CONCLUSION: Enlarged hyperechogenic kidneys and postaxial polydactyly are the two most common sonographic features of fetal BBS. Prenatal diagnosis of BBS can be done with ultrasound and genetic testing although the diagnosis may be made in the second trimester.
Asunto(s)
Síndrome de Bardet-Biedl , Fenotipo , Ultrasonografía Prenatal , Humanos , Síndrome de Bardet-Biedl/genética , Síndrome de Bardet-Biedl/diagnóstico , Femenino , Embarazo , Estudios Retrospectivos , Adulto , Polidactilia/genética , Polidactilia/diagnóstico por imagen , Polidactilia/diagnóstico , Genotipo , Segundo Trimestre del Embarazo , Pruebas Genéticas/métodosRESUMEN
BACKGROUND: To investigate the functional and aesthetic results of a new modified Bilhaut-Cloquet procedure for the treatment of Wassel type III-IV thumb polydactyly. METHODS: Thirteen patients with Wassel type III-IV thumb polydactyly who visited the Department of Orthopedics of Hebei Provincial Children's Hospital from 2019 to 2022 were selected. The surgical procedure involved a modified Bilhaut-Cloquet surgery, where two-thirds of the distal part of the dominant finger was retained as the p body of the reconstructed thumb. The triangular bone block of the ablated distal thumb that did not contain the epiphysis and articular cartilage was sutured and fixed, and the neurovascular flap of the ablated distal thumb was used as an augmenting segment of the reconstructed thumb, with the nail bed and nail matrix exquisitely sutured. The evaluation performed according to the Japanese Society for Surgery of the Hand (JSSH) system. RESULTS: All 13 children showed bone healing, no wound infection, nonunion, or deformity healing. None of the children showed a significant reduction in the active and passive mobility of the thumb postoperatively compared with preoperatively. Postoperative evaluation was performed based on the JSSH score, with a mean of 17.15 points (14-19 points), with 11 children rated as excellent and two as good. No severe nail ridges, nail gaps, or nail split deformities of the thumb were observed postoperatively. Postoperative metacarpophalangeal and interphalangeal joint movements were not reduced compared with preoperative movements. All parents were satisfied with the appearance and function of the reconstructed thumb. CONCLUSION: The modified Bilhaut-Cloquet procedure designed in this study was satisfactory for Wassel type III-IV thumb polydactyly without affecting the stability of the interphalangeal joints and preserving joint mobility. The postoperative thumb has a comparable circumference and nail width and was cosmetically and functionally satisfactory, especially for the asymmetric two thumbs, which achieved favorable results.
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Procedimientos Ortopédicos , Polidactilia , Niño , Humanos , Lactante , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Procedimientos Ortopédicos/métodos , Pulgar/diagnóstico por imagen , Pulgar/cirugía , Pulgar/anomalías , Cicatrización de HeridasRESUMEN
INTRODUCTION: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a rare autosomal dominant disorder characterized by megalencephaly (i.e., overgrowth of the brain), polymicrogyria, focal hypoplasia of the cerebral cortex, and polydactyly. Persistent hyperplastic primary vitreous (PHPV) involves a spectrum of congenital ocular abnormalities that are characterized by the presence of a vascular membrane behind the lens. CASE PRESENTATION: Here, we present a case of foetal MPPH with PHPV that was diagnosed using prenatal ultrasound. Ultrasound revealed the presence of megalencephaly, multiple cerebellar gyri, and hydrocephalus. Whole-exome sequencing confirmed the mutation of the AKT3 gene, which led to the consideration of MPPH syndrome. Moreover, an echogenic band with an irregular surface was observed between the lens and the posterior wall of the left eye; therefore, MPPH with PHPV was suspected. CONCLUSION: MPPH syndrome with PHPV can be diagnosed prenatally.
Asunto(s)
Hidrocefalia , Malformaciones del Desarrollo Cortical , Megalencefalia , Vítreo Primario Hiperplásico Persistente , Polidactilia , Polimicrogiria , Embarazo , Femenino , Humanos , Polimicrogiria/diagnóstico por imagen , Polimicrogiria/genética , Vítreo Primario Hiperplásico Persistente/diagnóstico por imagen , Imagen por Resonancia Magnética , Malformaciones del Desarrollo Cortical/diagnóstico , Malformaciones del Desarrollo Cortical/genética , Hidrocefalia/diagnóstico por imagen , Megalencefalia/genética , Polidactilia/diagnóstico por imagen , Polidactilia/genética , Síndrome , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Previous classifications in polydactyly of the thumb were by the level of duplication on radiography. This study aimed to develop a practical algorithm based on physical characteristics for treatment guidelines. METHODS: The polydactylies were stratified using four physical characteristics: floating, symmetry, dominant side, and joint angulation/nail size. The algorithm identified the hypoplastic type and then stratified the polydactylies as symmetric and asymmetric. The asymmetric type was divided into ulnar dominant and radial dominant. The symmetric type was divided into adequate type and inadequate type. The prediction of treatments was studied retrospectively by the distribution of surgical procedures in 500 patients with 545 affected thumbs, by the new classification and the Wassel-Flatt classification. RESULTS: Of the 545 polydactylies, 78 (14.5%) were categorized as the hypoplastic type, 369 (67.5%) as the ulnar-dominant type, 8 (1.5%) as the radial-dominant type, 70 (12.8%) as the symmetric adequate nail type, and 20 (3.7%) as the symmetric inadequate type. Treatments were excision and reconstruction in 403 polydactylies (73.9%), simple excision in 135 polydactylies (24.8%), and the Bilhaut-Cloquet procedure, ray amputation, and on-top plasty procedures were only performed in 7 polydactylies (1.3%). The distribution of surgical procedures was distinct among the new classification types and was similar among the Wassel-Flatt types. CONCLUSIONS: The new classification stratified polydactylies by physical findings in a stepwise manner. Though surgical technical details are not included, this simple classification is useful for paediatricians and parents to understand how a surgical decision is made. LEVEL OF EVIDENCE: Diagnostic Level IV.
Asunto(s)
Procedimientos de Cirugía Plástica , Polidactilia , Pulgar/anomalías , Humanos , Pulgar/diagnóstico por imagen , Pulgar/cirugía , Estudios Retrospectivos , Polidactilia/diagnóstico por imagen , Polidactilia/cirugíaRESUMEN
BACKGROUND: Postaxial polydactyly of the foot is one of the most common congenital abnormalities. A wide forefoot, short toe, and lateral joint deviation are associated with aesthetic and functional outcomes. This study used the Watanabe-Fujita classification to characterize the preoperative and postoperative skeletal morphology of postaxial polydactyly of the foot. METHODS: This retrospective study included 42 patients (51 feet) with postaxial polydactyly treated at age 1 year. Radiographs taken at ages 0 and 3 to 4 years were used for morphologic analysis. The length of the reconstructed toe, the distance between the fourth and fifth metatarsals, and joint deviation angles were measured. The length measures were standardized using the length of the third metatarsal. Morphologic characteristics were compared based on the Watanabe-Fujita classification at ages 0 and 3 to 4 years. Long-term outcomes were also evaluated in patients followed up for longer than 6 years. RESULTS: The fifth-ray proximal phalangeal subtype had the shortest toe length both at ages 0 and 3 to 4 years. Proximal phalangeal joint lateral deviation improved postoperatively in 78% of patients with the fifth-ray middle phalangeal subtype, regardless of reconstruction type. There was no significant change in proximal phalangeal joint deviation between ages 3 to 4 years and 7 years or older. A residual metatarsal was associated with lateral metatarsophalangeal joint deviation and a wide intermetatarsal distance, and required revision surgery. CONCLUSIONS: Morphologic changes of postaxial polydactyly of the foot were successfully characterized using the Watanabe-Fujita classification. This classification could be useful for planning surgical strategies and anticipating morphologic outcomes. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.
Asunto(s)
Pie , Polidactilia , Humanos , Lactante , Estudios Retrospectivos , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugía , Dedos del Pie/anomalíasRESUMEN
A patient was born with a mass at the base of the thumb approximately 1.5 cm in diameter on the radial side of the fingers. The mass had globular swelling filled with hemorrhagic fluid and was dark red. X-rays and histology of the excised specimen suggested the diagnosis of gangrene and torsion of polydactyly. Prenatal torsion of polydactyly is not a common occurrence; moreover, prenatal torsion of polydactyly has only been found in ulnar polydactyly. Our case is a novel case of radial polydactyly that was gangrenous at birth owing to prenatal torsion. Diagnosing such a mass at the base of the thumb is important.
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Polidactilia , Pulgar , Recién Nacido , Humanos , Pulgar/cirugía , Pulgar/patología , Gangrena/cirugía , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Dedos/patologíaRESUMEN
INTRODUCTION: Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly. Atrial septal defect is one of the most common congenital heart diseases, occurring when the connection between the left and the right atriums fails to close. Polydactyly is one of the most common congenital malformations of the hands and feet. It manifests in excess fingers on the hands or toes. CASE PRESENTATION: A 6-year-old Arab girl presented to the hospital with abdominal pain for the last month with abdominal enlargement. The patient was already diagnosed with Caroli disease and polydactyly (six fingers on each limb) when she was born. Investigations including complete blood count, blood smear, bone marrow biopsy, esophagoscopy, abdominal ultrasound, and computed tomography scan showed splenomegaly associated with hypersplenism, fourth-grade non-bleeding varices, intrahepatic cystic formations in the left and right lobes, and an atrial septal defect with a left-to-right shunt. The patient was scheduled for a splenectomy after she was vaccinated with the appropriate vaccines. After follow-up for a week in the hospital, complete blood count showed an improvement. A month after that, the patient had liver abscesses and biliary fistula that were treated appropriately and her symptoms resolved. CONCLUSION: The association of liver diseases, polydactyly, and congenital heart diseases is extremely rare and was only documented few times in the literature. However, to our knowledge, atrial septal defect has never been part of this combination before. The family history also makes this case unique and strongly suggests genetic etiology.
Asunto(s)
Enfermedad de Caroli , Defectos del Tabique Interatrial , Polidactilia , Femenino , Humanos , Niño , Enfermedad de Caroli/complicaciones , Enfermedad de Caroli/diagnóstico , Enfermedad de Caroli/patología , Esplenomegalia , Conductos Biliares Intrahepáticos/patología , Polidactilia/diagnóstico , Polidactilia/diagnóstico por imagen , Defectos del Tabique Interatrial/diagnóstico , Defectos del Tabique Interatrial/diagnóstico por imagenRESUMEN
Postaxial polydactyly (PAP) is a common abnormality characterized by extra digits on hands and/or feet. To date, sequence variants in seven genes have been identified in non-syndromic PAP. In the present study, a fetus manifesting non-syndromic postaxial polydactyly type A (PAPA) was found by fetal ultrasonography. To better evaluate fetal prognosis, SNP array analysis and trio whole-exome sequencing (trio-WES) were performed to identify the underlying etiology. Although SNP array analysis revealed no abnormality, trio-WES identified compound heterozygous splice site variants in KIAA0825, c.-1-2A>T and c.2247-2A>G in intron 2 and intron 12, respectively. These two splice site variants were absent in control databases and were predicted to influence splicing by in silico analysis. To confirm the potential pathogenicity of the variants, in vitro splicing assays using minigene and RNA from peripheral leukocytes of the heterozygous parents were conducted. Minigene and RT-PCR assays demonstrated that the c.-1-2A>T variant led to the loss of the initiation codon, and the c.2247-2A>G variant mainly resulted in exon 13 skipping. Prenatal WES and subsequent functional studies are important approaches for defining the genetic etiology of fetuses with PAPA and are also essential for accurate genetic counseling and decision making. Taken together, this study expands the spectrum of KIAA0825 variations in PAPA patients and increases the knowledge of the molecular consequences of KIAA0825 splice site variants.
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Péptidos y Proteínas de Señalización Intracelular/genética , Polidactilia , Femenino , Feto/diagnóstico por imagen , Dedos/anomalías , Humanos , Polidactilia/diagnóstico por imagen , Polidactilia/genética , Embarazo , Dedos del Pie/anomalíasRESUMEN
Eccentric location of two nails like eyes of a bird are frequently observed in central polydactyly of the foot. A novel technique of rotational osteo-onychocutaneous (OOC) flap procedure is introduced to correct this deformity. Six children with central polydactyly of the foot who showed eccentric locations of nails were operated by this technique. Four patients were distal phalangeal type, and two middle phalangeal type. Preoperatively the angulation deformity of distal phalangeal type was average 16.8 (range, 2.3-48.0) degrees, and middle phalangeal type 10.3 (range, 2.9-17.7) degrees. The rotational OOC flap procedure was performed at average 24 (range, 12-51) months of age. Cosmetic and radiographic assessments were done after an average of 42 (range, 6-79) months of follow-up. All patients and their parents were satisfied with the cosmetic results. The angulation deformity was improved to average 4.2 (range, 0.5-11.2) degrees in distal phalangeal type, and 5.9 (range, 2.0-9.8) degrees in middle phalangeal type, respectively. Postoperative residual angulation deformity measured by simple radiographs were less than 5° in all patients. Complications such as partial necrosis of the flap were not found. In conclusion, our novel technique of rotational OOC flap procedure resulted in satisfactory outcome for patients with 'eyes of a bird' type toe nail deformity of central polydactyly of the foot. It corrected the angulation and rotational deformity of the toe nail of the main digit without causing any complications.
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Falanges de los Dedos de la Mano , Polidactilia , Niño , Pie , Humanos , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Colgajos Quirúrgicos , Dedos del Pie/cirugíaRESUMEN
BACKGROUND: GLI3 encodes a zinc finger transcription factor that plays a role in the sonic hedgehog pathway. Germline pathogenic GLI3 variants are associated with Greig cephalopolysyndactyly and Pallister-Hall syndromes, two syndromes involving brain malformation and polydactyly. METHODS: We identified patients with pathogenic GLI3 variants and brain malformations in the absence of polydactyly or other skeletal malformation. RESULTS: Two patients were identified. Patient #1 is a 4-year-old boy with hypotonia and global developmental delay. Brain MRI showed a focal cortical dysplasia, but he had no history of seizures. Genetic testing identified a de novo likely pathogenic GLI3 variant: c.4453A>T, p.Asn1485Tyr. Patient #2 is a 4-year-old boy with hypotonia, macrocephaly, and global developmental delay. His brain MRI showed partial agenesis of the corpus callosum, dilatation of the right lateral ventricle, and absent hippocampal commissure. Genetic testing identified a de novo pathogenic GLI3 variant: c.4236_4237del, p.Gln1414AspfsTer21. Neither patient had polydactyly or any apparent skeletal abnormality. CONCLUSIONS: These patients widen the spectrum of clinical features that may be associated with GLI3 pathogenic variants to include hypotonia, focal cortical dysplasia, and other brain malformations, in the absence of apparent skeletal malformation. Further study is needed to determine if GLI3 pathogenic variants are a more common cause of focal cortical dysplasia or corpus callosum agenesis than presently recognized.
Asunto(s)
Malformaciones del Desarrollo Cortical , Polidactilia , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Preescolar , Proteínas Hedgehog/genética , Humanos , Masculino , Malformaciones del Desarrollo Cortical/complicaciones , Hipotonía Muscular/complicaciones , Hipotonía Muscular/genética , Proteínas del Tejido Nervioso/genética , Fenotipo , Polidactilia/complicaciones , Polidactilia/diagnóstico por imagen , Polidactilia/genética , Síndrome , Proteína Gli3 con Dedos de Zinc/genéticaRESUMEN
INTRODUCTION: Aventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a case of polymalformation affecting the brain, hands, and feet observed in a highly consanguineous family in Niger. CASE REPORT: A boy was born from a highly consanguineous family presenting multiple malformations (aventriculy, extreme microcephaly, polydactyly, polymicrogyria, callosal agenesis, and parietal encephalocele). To the best of our knowledge, such association has never been reported so far. DISCUSSION: We propose to name this association PAPEC (for polymicrogyria, aventriculy, polydactyly, encephalocele, and callosal agenesis). The occurrence of this disease in a highly consanguineous family suggests a genetic origin. Furthermore, we propose hypotheses that could explain pathophysiology of this defect.
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Polidactilia , Polimicrogiria , Agenesia del Cuerpo Calloso/diagnóstico por imagen , Encefalocele/complicaciones , Encefalocele/diagnóstico por imagen , Humanos , Masculino , Polidactilia/complicaciones , Polidactilia/diagnóstico por imagen , Polidactilia/genética , Polimicrogiria/diagnóstico por imagen , SíndromeRESUMEN
BACKGROUND: Radial Polydactyly Type IV-D deformity is difficult to treat because of the most complex bone and soft tissue anomalies. Resection and reconstruction for one of the two thumbs was an option for treatment. OBJECTIVE: The study was to present our method of resection and reconstruction with a new incision for radial polydactyly Type IV-D and evaluate the clinical efficacy comprehensively using Rotterdam assessment system in a large sample. METHODS: 206 cases of type IV-D thumb duplication underwent resection and reconstruction surgical treatment between 2010 and 2019. Two equal triangle flap incisions were designed around the radial thumb. The radial thumb was resected and the ulnar thumb was reconstructed in aspects of bone, tendons, ligaments and abductor pollicis brevis. The clinical results were evaluated using Rotterdam assessment system. RESULTS: The mean follow-up period was 2.2 years (SD 1.5). The mean age of the patients was 9 months (SD 1.8) at the time of operation. The mean ranges of active IP and MP joint flexion and extension were 110° and 26°. The mean angulations for IP and MP joint instabilities were 3° and 11°, relatively. Angulation for palmar abduction was 58°. The mean appearance domain score was 8.9. The average parental satisfaction score was 2.5 and the average patient-reported pain score was 2.1. The mean functional domain score for all patients was 6.6. The average appearance domain score was 8.9. The mean patient-reported domain score was 4.5. The mean Rotterdam outcome score was 20.0, equivalent to 67% of the full score. The postoperative score of patients over two years old was significantly lower than that of patients under two years old. CONCLUSION: Resection and reconstruction method with two equal triangle flap incisions was a recommended treatment for radial polydactyly Type IV-D. LEVEL OF EVIDENCE: IV.
Asunto(s)
Procedimientos de Cirugía Plástica , Polidactilia , Preescolar , Humanos , Lactante , Articulación Metacarpofalángica , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Procedimientos de Cirugía Plástica/métodos , Estudios Retrospectivos , Pulgar/diagnóstico por imagen , Pulgar/cirugíaAsunto(s)
Polidactilia , Humanos , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Dedos del PieRESUMEN
In lateral ray polydactyly, the reconstructed toe often tends to become thicker, but no standard evaluation criteria for this thickness are available. 57 patients (68 toes) with Hirai-Togashi classification type II, III, or IV whom we were able to follow-up for more than 6 months after the operation were underwent measurement of the "Reconstructed toe width to Third toe width ratio." In addition, 16 patients who could be followed up for 3 years through the mid-term course were evaluated for mid-term progress. At 6 months after surgery, the mean R/T ratio was 1.246. In patients who could be followed up for 3 years after surgery, the mean R/T ratios at 6 months after surgery and at 3 years were significantly decreased. This result suggests that the thickness of the reconstructed toe may become relatively thin in the long term.
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Polidactilia , Pie , Humanos , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugíaRESUMEN
The treatment of postaxial polydactyly requires excision of the medial fifth or lateral sixth toe, and separation of the adjacent fourth/fifth toes if the adjacent toes exhibit skin syndactyly. Morphological changes in the retained toes and reoperation are common problems after such surgery. This study examined the effects of preoperative classifications and selecting the medial fifth or lateral sixth toe for excision on the postoperative outcomes of surgery for postaxial polydactyly. From April 2006 to March 2019, surgery for postaxial polydactyly was performed on 55 feet in 49 patients. The patients' mean age at surgery was 28.8 months. Postoperative esthetic and bone alignment scores, the reoperation rate, and postoperative dysfunction were examined. The postoperative esthetic and bone alignment evaluations were performed by examining postoperative photograph and X-ray images using original scoring systems. The surgical procedure was chosen by the surgeon-in-charge during a preoperative conference after considering the toe growth and bone alignment. In the postoperative esthetic evaluation, excising the lateral sixth toe produced significantly better outcomes than excising the medial fifth toe. The morphological classification also indicated that excising the lateral sixth toe produced better outcomes, as it resulted in the bifurcated toes being clearly independent. Interestingly, the postoperative X-ray-based bone alignment score was not correlated with the esthetic score. The reoperation rate tended to be high after medial fifth toe excision. There were no postoperative functional complications. Lateral sixth toe excision for postaxial polydactyly of the foot produces good postoperative esthetic outcomes.
Asunto(s)
Polidactilia , Dedos/anomalías , Dedos/cirugía , Humanos , Polidactilia/diagnóstico por imagen , Polidactilia/cirugía , Dedos del Pie/anomalías , Dedos del Pie/diagnóstico por imagen , Dedos del Pie/cirugía , Rayos XRESUMEN
PURPOSE: Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. METHODS: Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes. RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively. CONCLUSION: Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.
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Ciliopatías , Enfermedades Renales Poliquísticas , Polidactilia , Trastornos de la Motilidad Ciliar , Ciliopatías/genética , Encefalocele , Femenino , Feto , Humanos , Enfermedades Renales Poliquísticas/diagnóstico por imagen , Enfermedades Renales Poliquísticas/genética , Polidactilia/diagnóstico por imagen , Embarazo , Retinitis Pigmentosa , Estudios RetrospectivosRESUMEN
CASE: We report a rare case of polymetatarsia without polydactyly. Our patient presented with pain and difficulty with shoewear. Radiographs showed an accessory metatarsal arising from the lateral aspect of the fourth metatarsal proximal metaphysis, fusing distally with the medial aspect of the fifth metatarsal head to form a single metatarsophalangeal joint. He was treated with a chevron osteotomy of the conjoined complex and an Akins osteotomy of the fifth proximal phalanx. Our patient recovered functionally, and his pain improved postoperatively. CONCLUSION: The chevron osteotomy is an option for treating polymetatarsia without polydactyly with the aim of reducing the forefoot width. LEVEL OF EVIDENCE: Case study, level 5.
Asunto(s)
Huesos Metatarsianos , Articulación Metatarsofalángica , Polidactilia , Pie , Humanos , Masculino , Huesos Metatarsianos/diagnóstico por imagen , Huesos Metatarsianos/cirugía , Osteotomía/métodos , Polidactilia/diagnóstico por imagen , Polidactilia/cirugíaRESUMEN
OBJECTIVE: We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities. CASE REPORT: A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Amniocentesis was performed subsequently, and QF-PCR analysis using the polymorphic DNA markers of D13S789 (13q22.3), D13S790 (13q31.1) and D13S767 (13q31.3) on the DNA extracted from uncultured amniocytes and parental bloods showed trisomy 13 of maternal origin. Conventional cytogenetic analysis on the cultured amniocytes confirmed trisomy 13. The pregnancy was subsequently terminated, and a malformed fetus was delivered with multiple anomalies consistent with the prenatal diagnosis. CONCLUSION: QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin when prenatal ultrasound findings are suspicious of fetal trisomy 13.
Asunto(s)
Anomalías Múltiples/genética , Amniocentesis/métodos , Cardiopatías Congénitas , Holoprosencefalia/genética , Polidactilia/genética , Síndrome de la Trisomía 13/diagnóstico , Síndrome de la Trisomía 13/genética , Anomalías Múltiples/diagnóstico por imagen , Adulto , Hibridación Genómica Comparativa , Femenino , Feto , Dedos/anomalías , Holoprosencefalia/diagnóstico por imagen , Humanos , Hibridación Fluorescente in Situ , Polidactilia/diagnóstico por imagen , Reacción en Cadena de la Polimerasa , Embarazo , Fluorescencia Cuantitativa Inducida por la Luz , Dedos del Pie/anomalíasRESUMEN
BACKGROUND: Thumb duplication is a very common congenital malformation. This study describes and compares the phenotypic manifestations of polydactyly between southwest and northeast China. However, previous studies had a limited sample size. Therefore, this study used a large sample. METHODS: A total of 3549 well-characterized thumb duplication cases were divided into group A (southwest China) and group B (northeast China). RESULTS: In group A and group B, the left-to-right ratio was 1:1.5 and 1:1.75, respectively, and the female-to-male ratio was 1:1.5 and 1:1.58, respectively. CONCLUSIONS: There were no significant differences in gender distribution or the distribution of left and right polydactyly between the two groups, but the distribution of bilateral polydactyly was significantly different.