Asunto(s)
Fijación Interna de Fracturas , Fracturas Óseas , Hallux , Humanos , Fijación Interna de Fracturas/métodos , Fracturas Óseas/cirugía , Hallux/lesiones , Hallux/cirugía , Reducción Cerrada/métodos , Masculino , Falanges de los Dedos del Pie/lesiones , Falanges de los Dedos del Pie/cirugía , Resultado del Tratamiento , FemeninoRESUMEN
This study provides a complete, updated and illustrated inventory, as well as a comprehensive study, of the metatarsals and foot phalanges (forefoot) recovered from the Middle Pleistocene site of Sima de los Huesos (SH, Atapuerca, Spain) in comparison to other Homo comparative samples, both extant and fossils. This current updated review has established a minimum number of individuals (MNI) of 17, which represent 58.6% of the 29 dental individuals identified within the SH sample. An exclusive or autoapomorphic combination of traits can be recognized within the SH hominin foot sample. A few traits appear primitive or plesiomorphic when compared with earlier Homo individuals and other recent modern humans. There are other metrical and morphological traits that SH hominins and Neandertals have in common that sometimes represent shared derived traits in this evolutionary line, most of which are probably related to robusticity. Furthermore, some exclusive autoapomorphic traits are observed in the SH sample: a very broad first metatarsal, long and broad hallucal proximal foot phalanges and possibly extremely robust lateral distal foot phalanges compared to those of Neandertals and modern humans. In these last traits, the SH metatarsals and pedal phalanges are even more robust than in Neandertals. They are herein named as "hyper-Neandertal" traits, which could suggest a slight gracilization process in this evolutionary line, at least in the hallux toe. Finally, some paleobiological inferences are made in relation to body size (stature and body mass) and some associations are proposed within the SH sample.
Asunto(s)
Fósiles , Hominidae , Huesos Metatarsianos , Animales , Fósiles/anatomía & histología , España , Huesos Metatarsianos/anatomía & histología , Humanos , Hominidae/anatomía & histología , Hominidae/fisiología , Evolución Biológica , Hombre de Neandertal/anatomía & histología , Falanges de los Dedos del Pie/anatomía & histologíaRESUMEN
This article describes a 50-year-old woman with a giant cell tumour involving the base of the proximal phalanx, which was resected and reconstructed with a non-vascularised toe phalanx graft. The toe phalanx graft united well, and there was no tumour recurrence at the 24-month follow-up.
Asunto(s)
Neoplasias Óseas , Tumor Óseo de Células Gigantes , Femenino , Humanos , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Falanges de los Dedos del Pie/trasplante , Tumor Óseo de Células Gigantes/cirugía , Neoplasias Óseas/cirugía , Dedos del Pie/cirugíaRESUMEN
El Hallux Varus Iatrogénico es una complicación de la cirugía correctiva del Hallux Valgus muy poco frecuente. El tratamiento incluye la intervención de los tejidos blandos, y óseos. El propósito de este trabajo es mostrar los resultados clínico-radiológicos del tratamiento quirúrgico del Hallux Varus Iatrogénico Flexible Severo empleando la combinación de técnicas de reconstrucción alternativas en una paciente femenina de 59 años de edad. Se realizó liberación medial de la capsula articular MTF y abductor, osteotomía de Chevron reverso, artrodesis interfalángica izquierda, transferencia tendinosa del extensor largo de Hallux hacia plantar con botón artesanal. De acuerdo a la Escala AOFAS aumentó de 30 a 90 puntos. Se logró la corrección estable de la deformidad en varo y la consolidación de la osteotomía. El Hallux Varus Iatrogénico es una complicación poco frecuente considerada una deformidad mal tolerada, con pocos casos reportados y pocos reportes. Se debe hacer un enfoque de tratamiento paso a paso para abordar todos los elementos involucrados en el Hallux Varus iatrogénico. La corrección quirúrgica del Hallux Varus iatrogénico severo con técnicas de reconstrucción no convencionales tipo Chevron reverso y transferencia tendinosa con botón plantar, es una excelente opción terapéutica de acuerdo a los resultados obtenidos en este caso(AU)
Iatrogenic Hallux Varus is a very rare complication of Hallux Valgus corrective surgery. The treatment includes the intervention of soft tissues and bones. The purpose of this paper is to show the clinical-radiological results of the surgical treatment of Severe Flexible Iatrogenic Hallux Varus using the combination of alternative reconstruction techniques in a 59-year-old female patient. Medial release of the MTF and abductor joint capsule, reverse Chevron osteotomy, left interphalangeal arthrodesis, tendon transfer of the long extensor of Hallux to plantar with artisanal button was performed. According to the AOFAS Scale, it increased from 30 to 90 points. Stable correction of the varus deformity and consolidation of the osteotomy were achieved. Iatrogenic Hallux Varus is a rare complication considered a poorly tolerated deformity, with few reported cases and few reports. A step-by-step treatment approach must be taken to address all the elements involved in iatrogenic Hallux Varus. Surgical correction of severe iatrogenic Hallux Varus with unconventional reconstruction techniques such as reverse Chevron and plantar button tendon transfer is an excellent therapeutic option according to the results obtained in this case(AU)
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Osteotomía , Procedimientos Quirúrgicos Operativos , Hallux Varus/cirugía , Desviación Ósea , Falanges de los Dedos del PieRESUMEN
Fundamento: Las infecciones del sistema nervioso central constituyen una importante causa de morbilidad y mortalidad neurológica. La púrpura fulminante o meningococemia es una enfermedad grave que evoluciona a severas complicaciones y secuelas, sin embargo, es infrecuente que ocurra momificación o amputación natural de los dedos de las manos y los pies. Objetivo: Describir el caso de un paciente con meningococemia fulminante, al cual se le momificaron de manera natural las falanges de las manos y los pies como consecuencia de la enfermedad. Presentación del caso: Se presenta un paciente de 18 años de edad que fue diagnosticado con meningococemia. Clínicamente presentó fiebre, cefalea intensa, lesiones purpúrico hemorrágicas, petequias y hematomas en piel, evolutivamente shock séptico y disfunción múltiple de órganos. Posterior a 16 días de estadía en sala egresó vivo del hospital, pero con secuelas caracterizadas por momificación de las falanges de las manos y los pies. Conclusiones: La meningococemia es una enfermedad aguda, potencialmente mortal y se reporta mayormente en la edad pediátrica. Entre los sobrevivientes es infrecuente que ocurra la momificación de las falanges de las manos y los pies, como ocurrió en el caso reportado.
Background: Infections of the central nervous system are a significant cause of neurological morbidity and mortality. Purpura fulminans or meningococcemia is a serious disease that evolves into severe complications and sequelae, however it is infrequent for mummification or natural amputation of fingers and toes to occur. Objective: To describe the case of a patient with fulminant meningococcemia, in whom hands and feet phalanges were naturally mummified as a consequence of the disease. Case report: An 18-year-old patient diagnosed with meningococcemia is presented. Clinically, he presented fever, intense headache, purpuric hemorrhagic lesions, petechiae and bruises on the skin, progressively septic shock and multiple organ dysfunction. After 16 days in hospital, he was discharged alive, but with some sequelae characterized by mummification of the hands and feet phalanges. Conclusions: Meningococcemia is an acute, life-threatening disease and is mostly reported in the pediatric age. Mummification of the hands and feet phalanges is uncommon among survivors, as occurred in the reported case.
Asunto(s)
Falanges de los Dedos del Pie , Falanges de los Dedos de la Mano , Infecciones MeningocócicasRESUMEN
OBJECTIVES: As hands and feet are serially repeated corresponding structures in tetrapods, the morphology of fingers and toes is expected to covary due to a shared developmental origin. The present study focuses on the covariation of the shape of proximal finger and toe phalanges of adult Homo sapiens to determine whether covariation is different in the first ray relative to the others, as its morphology is also different. MATERIAL AND METHODS: Proximal phalanges of 76 individuals of unknown sex (Muséum national d'Histoire naturelle, Paris, and the Natural History Museum, London) were digitized using a surface scanner. Landmarks were positioned on 3D surface models of the phalanges. Generalized Procrustes analysis and two-block partial least squares (PLS) analyses were conducted. A novel landmark-based geometric morphometric approach focusing on covariation is based on a PCoA of the angles between PLS axes in morphospace. The results can be statistically evaluated. RESULTS: The difference in PCo scores between the first and the other rays indicates that the integration between the thumb and the big toe is different from that between the lateral rays of the hand and foot. DISCUSSION: We speculate that the results are possibly the evolutionary consequence of differential selection pressure on the big toe relative to the other toes related to the rise of bipedalism, which is proposed to have emerged very early in the hominin clade. In contrast, thumb morphology and its precision grip never ceased undergoing changes, suggesting less acute selection pressures related to the evolution of the precision grip.
Asunto(s)
Falanges de los Dedos de la Mano , Hominidae , Adulto , Animales , Humanos , Falanges de los Dedos del Pie/diagnóstico por imagen , Mano , Falanges de los Dedos de la Mano/diagnóstico por imagen , PulgarRESUMEN
Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive skeletal dysplasia characterized by short stature with short limb dwarfism, brachydactyly, and a narrow thorax. Major radiographic features are egg-shaped capital femoral epiphyses with a short femoral neck and cone-shaped epiphyses, mainly in the hands and hips. To date, only four child patients from two families have been reported. We describe two adult patients with ACFD with a novel homozygous c.478C>T (p.Arg160Cys) mutation in IHH in the third family of the literature. The reported cases showed a middle phalanges which fused with distal phalanges in the fifth toes, the typical configuration of metacarpals, radial angulation and extremely short femoral neck. These findings could help the diagnosis of ACFD in adult patients. We hope that this new family will be a helpful guide for predicting and managing the prognosis of diagnosed children.
Asunto(s)
Enfermedades del Desarrollo Óseo/genética , Braquidactilia/genética , Fémur/anomalías , Trastornos del Crecimiento/genética , Proteínas Hedgehog/genética , Adulto , Enfermedades del Desarrollo Óseo/patología , Braquidactilia/patología , Progresión de la Enfermedad , Epífisis/anomalías , Femenino , Fémur/patología , Cuello Femoral/anomalías , Falanges de los Dedos de la Mano/anomalías , Trastornos del Crecimiento/patología , Humanos , Mutación Missense , Linaje , Falanges de los Dedos del Pie/anomalíasAsunto(s)
Osteítis , Psoriasis/diagnóstico , Sarcoidosis , Enfermedades de la Piel , Falanges de los Dedos del Pie , Heridas y Lesiones/complicaciones , Adolescente , Diagnóstico Diferencial , Progresión de la Enfermedad , Hallux/diagnóstico por imagen , Hallux/patología , Humanos , Masculino , Osteítis/complicaciones , Osteítis/fisiopatología , Osteítis/terapia , Medicina Preventiva , Pronóstico , Sarcoidosis/diagnóstico , Sarcoidosis/inmunología , Sarcoidosis/fisiopatología , Sarcoidosis/terapia , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/etiología , Falanges de los Dedos del Pie/diagnóstico por imagen , Falanges de los Dedos del Pie/patologíaRESUMEN
In this article, we report a case of isolated podal osteochondroma from the prehistoric Hypogeum of Calaforno (Giarratana, Ragusa, Sicily). Although the phalanx exhibiting the benign tumoral mass comes from a context featuring several commingled remains, the very good state of preservation of this bone allowed us to perform a comprehensive study of the neoplasm by applying a multidisciplinary approach encompassing archeology, morphology, stereomicroscopy, and radiology. The results from this very ancient specimen have been assessed in the light of the available paleopathological literature and clinical implications currently encountered in modern patients.
Asunto(s)
Neoplasias Óseas/historia , Osteocondroma/historia , Falanges de los Dedos del Pie/patología , Regiones de la Antigüedad , Historia Antigua , Humanos , Paleopatología , SiciliaRESUMEN
EWSR1-SMAD3-positive fibroblastic tumor is a recently characterized neoplasm with distinct clinicopathologic features and recurrent EWSR1-SMAD3 gene fusion. ESFT typically presents as a small, painless tumor in extremity subcutaneous tissues. Their behavior is benign, although they are prone to local recurrence. They typically comprise two components: intersecting fascicles of overlapping, uniform plump spindle cells, and less cellular hyalinized areas containing stippled calcifications. Immunohistochemically, the cells consistently show diffuse ERG nuclear expression, while other markers are negative. The morphology of this neoplasm can lead to histologic confusion with both benign and malignant soft tissue tumors, including monophasic synovial sarcoma, malignant peripheral nerve sheath tumor, and spindle cell sarcoma, not otherwise specified. Correct identification of ESFT is critical, most importantly to avoid unnecessary overtreatment as sarcoma.
Asunto(s)
Biomarcadores de Tumor/genética , Proteínas de Fusión Oncogénica/genética , Proteína EWS de Unión a ARN/genética , Proteína smad3/genética , Neoplasias de los Tejidos Blandos/diagnóstico , Adulto , Diagnóstico Diferencial , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Sarcoma/diagnóstico , Sarcoma/patología , Neoplasias de los Tejidos Blandos/genética , Neoplasias de los Tejidos Blandos/patología , Falanges de los Dedos del PieRESUMEN
Osteochondromas are the most common benign bone tumors, which usually affect the metaphyseal region of long bones. Foot is an unusual location for these tumors with phalanges being a much rare site. Only a few case reports have been made of phalangeal osteochondromas. A patient with proximal phalangeal osteochondroma of third toe, presenting clinically as widening of the third web space, is described. A simple extraperiosteal excision of the tumor was done which resolved his forefoot deformity. At five years followup the patient had no recurrence or symptoms.
Asunto(s)
Neoplasias Óseas/diagnóstico , Neoplasias Óseas/cirugía , Osteocondroma/diagnóstico , Osteocondroma/cirugía , Falanges de los Dedos del Pie , Humanos , Masculino , Adulto JovenRESUMEN
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a newly identified strain of coronavirus in the human body and was reported in Wuhan at the end of 2019. So far, the epidemic is continuing and very serious, with the number of infections and deaths increasing. Despite active investigations around the world to better understand the dynamics of transmission and the scope of clinical disease, COVID-19 continues to spread rapidly from person to person. The common signs and symptoms of SARS-CoV-2 infection include fever, fatigue, dry cough, and dyspnea; in severe cases, patients may have acute respiratory distress syndrome, septic shock, metabolic acidosis difficult to treat and coagulation disorder. However, some patients who test positive for SARS-CoV-2 in their respiratory tract may not have such clinical signs and symptoms. This report presents a case study analysis of a patient admitted in the Fourth Taiyuan People's Hospital, who had suffered traumatic injuries from a car accident and survived COVID-19, with pleural effusion as the initial symptom. We report a case of 2019-NCOV with pleural effusion as the first symptom. Describe in detail the differential diagnosis, diagnosis, clinical management, and cure of this case. In order to combat the novel CoronaviruscoVID-19 in the process to provide lessons and help.
Asunto(s)
Accidentes de Tránsito , Infecciones por Coronavirus/diagnóstico , Traumatismo Múltiple/diagnóstico , Derrame Pleural/diagnóstico , Neumonía Viral/diagnóstico , Adulto , Betacoronavirus , COVID-19 , Otorrea de Líquido Cefalorraquídeo/complicaciones , Otorrea de Líquido Cefalorraquídeo/diagnóstico , Infecciones por Coronavirus/complicaciones , Progresión de la Enfermedad , Sinusitis del Etmoides/complicaciones , Sinusitis del Etmoides/diagnóstico , Femenino , Traumatismos de los Pies/complicaciones , Traumatismos de los Pies/diagnóstico , Humanos , Pulmón/diagnóstico por imagen , Fracturas Maxilares/complicaciones , Fracturas Maxilares/diagnóstico , Seno Maxilar/lesiones , Traumatismo Múltiple/complicaciones , Fracturas Orbitales/complicaciones , Pandemias , Derrame Pleural/etiología , Neumonía Viral/complicaciones , Fracturas de las Costillas/complicaciones , Fracturas de las Costillas/diagnóstico , SARS-CoV-2 , Falanges de los Dedos del Pie/lesiones , Tomografía Computarizada por Rayos X , Fracturas del Cúbito/complicaciones , Fracturas del Cúbito/diagnósticoRESUMEN
BACKGROUND: Microsurgical toe-to-hand transfer is a gold standard when it comes to repairing a thumb defect. Great toenail flap, thumbnail valva flap, free great toe, and second toe transplantation are the common methods in thumb reconstruction. Second toe transplantation achieves good function, but poor esthetics. Great toe transplantation achieves better esthetics, but hindered walking, due to the foot's loss of the great toe and moreover suboptimal thumb function. It is difficult to maintain both functional and esthetic satisfaction in thumb reconstruction. METHODS: We experimented with three different methods of toe to hand transfer. From October 2009 to July 2019, 30 patients with traumatic thumb defects received one of 3 different kinds of thumb reconstruction in our clinic according to their level of amputation. Divided evenly into three groups of ten, group one received a great toe transplantation, group two received a second toe transplantation, and group three received a combined great toenail flap and second toe phalanx transplantation. Each of the patients' thumbs had different levels of amputation at the metatarsophalangeal joint (MPJ) or distal interphalangeal joint (DIPJ). RESULTS: One patient suffered from a partial flap necrosis and received a groin flap to cover the defect. No other thumbs had any complications. The functional and esthetic results of both the donor and the recipient sites were satisfactory. Results show that, for patients with traumatic thumb defects, the combined transfer of flap and second toe phalanx was the best option. CONCLUSIONS: Compared to the great toe or second toe transfer, combined free transfer of the great toenail flap and second toe phalanx achieved a substantially better functional and esthetic result in the thumb reconstruction.
Asunto(s)
Colgajos Tisulares Libres/trasplante , Microcirugia/métodos , Procedimientos de Cirugía Plástica/métodos , Pulgar/cirugía , Dedos del Pie/cirugía , Dedos del Pie/trasplante , Adolescente , Adulto , Amputación Quirúrgica/métodos , Estética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pulgar/lesiones , Falanges de los Dedos del Pie/cirugía , Falanges de los Dedos del Pie/trasplante , Adulto JovenRESUMEN
BACKGROUND: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures; MIM 220500) is a rare multisystem genetic disorder, mainly characterized by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficit, and seizures. The disease is caused by homozygous or compound heterozygous mutation in the TBC1 domain family member 24 (TBC1D24) gene (gene locus/MIM 613577) on chromosome 16p13. OBJECTIVES: We report the first case of DOORS syndrome from Indonesia. MATERIALS AND METHODS: A review of the literature was conducted and cases compared. RESULTS: A 27-day-old baby girl was brought to us with a history of recurrent seizures and absence of all finger- and toenails since birth. In addition, physical examination revealed left eye strabismus and a single transverse palmar crease on both hands. X-rays of the hands and feet showed absence of the distal phalanx of her right and left fingers II-V and the distal phalanx of her right and left toes I-V, respectively. Brainstem-evoked response audiometry test revealed profound bilateral sensorineural deafness. Pentalogy of Fallot was diagnosed by echocardiography, while an abnormal diffuse epileptiform pattern was found on electroencephalography. CONCLUSION: This is the first report of an association between pentalogy of Fallot and single transverse palmar crease in DOORS syndrome.
Asunto(s)
Falanges de los Dedos de la Mano/anomalías , Pérdida Auditiva Sensorineural/diagnóstico , Discapacidad Intelectual/diagnóstico , Uñas Malformadas/diagnóstico , Convulsiones/diagnóstico , Falanges de los Dedos del Pie/anomalías , Dermatoglifia , Femenino , Defectos del Tabique Interatrial/diagnóstico , Humanos , Indonesia , Recién Nacido , Mutación , Proteínas Serina-Treonina Quinasas/genética , Recurrencia , Estrabismo/diagnóstico , Síndrome , Tetralogía de Fallot/diagnósticoRESUMEN
This article presents the indications, contraindications, preoperative surgical planning, surgical technique, and postoperative management of some of the most common percutaneous procedures in orthopedic foot and ankle surgery. The background of each procedure also is presented, supported by the latest in published literature to educate surgeons. Such topics include percutaneous bunionectomy, lesser toe deformity and bunionette correction, calcaneal osteotomy, cheilectomy, and first metatarsophalangeal joint arthrodesis.
Asunto(s)
Huesos del Pie/cirugía , Procedimientos Ortopédicos/métodos , Tobillo/diagnóstico por imagen , Tobillo/cirugía , Artrodesis/efectos adversos , Artrodesis/métodos , Pie/diagnóstico por imagen , Pie/cirugía , Huesos del Pie/diagnóstico por imagen , Hallux Valgus/diagnóstico por imagen , Hallux Valgus/cirugía , Humanos , Procedimientos Quirúrgicos Mínimamente Invasivos/efectos adversos , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Procedimientos Ortopédicos/efectos adversos , Osteotomía/efectos adversos , Osteotomía/métodos , Falanges de los Dedos del Pie/diagnóstico por imagen , Falanges de los Dedos del Pie/cirugíaRESUMEN
Arboreal primates such as chimpanzees exhibit pronounced curvature in their hand and foot phalanges, which is assumed to develop throughout life in response to mechanical loads produced by grasping and hanging from branches. Intriguingly, ancient fossil hominins also exhibit substantial phalangeal curvature, which, too, has been interpreted as a direct result of habitual arboreality during life. Here, we describe the phalangeal curvature of a chimpanzee who was raised during the 1930s in New York City to live much like a human, including by having very few opportunities to engage in arboreal activities. We show that the degree of hand and foot phalangeal curvature in this individual is indistinguishable from that of wild chimpanzees and distinct from humans. Thus, rather than being a direct effect of mechanical loads produced by lifetime arboreal activities, phalangeal curvature appears to be shaped largely by genetic factors. An important implication of this finding is that phalangeal curvature among fossil hominins is evidently best interpreted as a primitive trait inherited from an arboreal ancestral species rather than proof of engagement in arboreal activities during life.
Asunto(s)
Falanges de los Dedos de la Mano/anatomía & histología , Falanges de los Dedos del Pie/anatomía & histología , Animales , Femenino , Falanges de los Dedos de la Mano/fisiología , Fósiles , Humanos , Locomoción/fisiología , Pan troglodytes/anatomía & histología , Pan troglodytes/fisiologíaRESUMEN
OBJECTIVE: To describe the effects of distal limb immobilization and remobilization in the equine metacarpophalangeal joint. STUDY DESIGN: Randomized, prospective experimental study. ANIMALS: Eight healthy, skeletally mature horses. METHODS: One forelimb of each horse was immobilized in a fiberglass cast for 8 weeks; this was followed by 12 weeks of a treadmill-based training program after the cast had been removed. Clinical examinations, radiography, computed tomography (CT), nuclear scintigraphy, MRI, and histomorphometry were used to examine the third metacarpal (MC3), proximal phalanx, proximal sesamoid bones, and associated soft tissues in each horse. Serum and synovial fluid were collected for biomarker analyses. RESULTS: Distal limb immobilization resulted in persistent lameness (P < .001), effusion (P = .002), and a decreased range of motion (P = .012) as well as radiographically visible fragments (P = .036) in the cast forelimb. Bone density was decreased (P < .001) in MC3 according to CT, and trabecular bone fluid was increased (P < .001) according to MRI in the cast forelimb. The cast forelimbs had a change (P = .009) in the appearance of the deep digital flexor tendon according to MRI immediately after removal of the cast. Numerous clinical, radiographic, CT, and MR abnormalities were visible at the end of the study period. CONCLUSION: Eights weeks of cast immobilization induced changes in bone, cartilage, and periarticular soft tissues that were not reversed after 12 weeks of remobilization. CLINICAL SIGNIFICANCE: Cast application should be used judiciously in horses with musculoskeletal injuries, balancing appropriate stabilization with potential morbidity secondary to cast placement.
Asunto(s)
Articulaciones Carpometacarpianas/fisiología , Miembro Anterior/fisiología , Caballos/fisiología , Inmovilización/veterinaria , Animales , Femenino , Masculino , Huesos del Metacarpo/fisiología , Huesos Sesamoideos/fisiología , Falanges de los Dedos del Pie/fisiologíaRESUMEN
Multiple synostoses syndrome (SYNS1; OMIM# 186500) is a rare autosomal dominant disorder reported in a few cases worldwide. We report a Chinese pedigree characterized by proximal symphalangism, conductive hearing loss, and distinctive facies. We examined the genetic cause and reviewed the literature to discuss the pathogeny, treatment, and prevention of SYNS1. Audiological, ophthalmological, and radiological examinations were evaluated. Whole-exome sequencing (WES) was performed to identify mutations in the proband and her parents. Sanger sequencing was used to verify the results for the proband, parents, and grandmother. The literature on the genotype-phenotype correlation was reviewed. The patient was diagnosed with multiple synostoses syndrome clinically. WES and bioinformatic analysis revealed a novel missense mutation in the NOG gene, c.554C>G (p.Ser185Cys), cosegregated in this family. The literature review showed that the phenotype varies widely, but the typical facies, conductive hearing loss, and proximal symphalangism occurred frequently. All reported mutations are highly conserved in mammals based on conservation analysis, and there are regional hot spots for these mutations. However, no distinct genotype-phenotype correlations have been identified for mutations in NOG in different races. Regular systematic examinations and hearing aids are beneficial for this syndrome. However, the outcomes of otomicrosurgery are not encouraging owing to the regrowth of bone. This study expanded the mutation spectrum of NOG and is the first report of SYNS1 in a Chinese family. Genetic testing is recommended as part of the diagnosis of syndromic deafness. A clinical genetic evaluation is essential to guide prevention, such as preimplantation genetic diagnosis.
Asunto(s)
Anquilosis/genética , Huesos del Carpo/anomalías , Proteínas Portadoras/genética , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/genética , Pérdida Auditiva Conductiva/genética , Estribo/anomalías , Sinostosis/genética , Huesos Tarsianos/anomalías , Falanges de los Dedos del Pie/anomalías , Anquilosis/complicaciones , Anquilosis/epidemiología , Anquilosis/patología , Huesos del Carpo/patología , Niño , Preescolar , China/epidemiología , Femenino , Deformidades Congénitas del Pie/complicaciones , Deformidades Congénitas del Pie/epidemiología , Deformidades Congénitas del Pie/patología , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Deformidades Congénitas de la Mano/complicaciones , Deformidades Congénitas de la Mano/epidemiología , Deformidades Congénitas de la Mano/patología , Pérdida Auditiva Conductiva/complicaciones , Pérdida Auditiva Conductiva/epidemiología , Pérdida Auditiva Conductiva/patología , Humanos , Masculino , Mutación Missense/genética , Linaje , Fenotipo , Estribo/patología , Sinostosis/complicaciones , Sinostosis/epidemiología , Sinostosis/patología , Huesos Tarsianos/patología , Falanges de los Dedos del Pie/patología , Dedos del Pie/anomalías , Dedos del Pie/patología , Secuenciación del ExomaAsunto(s)
Artritis Psoriásica/diagnóstico , Edema/diagnóstico por imagen , Entesopatía/diagnóstico , Osteomielitis/diagnóstico , Articulación del Dedo del Pie/diagnóstico por imagen , Falanges de los Dedos del Pie/diagnóstico por imagen , Anciano , Antirreumáticos/uso terapéutico , Artritis Psoriásica/tratamiento farmacológico , Artritis Psoriásica/genética , Artritis Psoriásica/fisiopatología , Médula Ósea/diagnóstico por imagen , Diagnóstico Diferencial , Eritema , Articulaciones de los Dedos/fisiopatología , Antígeno HLA-B27/genética , Humanos , Infliximab/uso terapéutico , Masculino , Metotrexato/uso terapéutico , Dolor , Examen Físico , Psoriasis/genética , Sinovitis/diagnóstico , Articulación del Dedo del Pie/fisiopatología , Falanges de los Dedos del Pie/fisiopatologíaRESUMEN
The 12 left digits of the thoracic limb of Holstein female cows were obtained from a slaughterhouse, and 13 linear measurements of skeletal specimens of the digits of the thoracic limb were used in this study. Bivariate plots, regressions and correlation analyses were performed to assess the relationships between osteometric data and age, and between osteometric data and body size. The geometric mean (GM) of the metacarpal size was used as a proxy of body weight. The results of the regression analysis demonstrated that the length and the width of the distal phalanx were significantly correlated with age, whereas those of other bones were not. In addition, the correlations of the distal phalanx tended to be higher with age than with the GM of the metacarpal size, and their skeletal measurements tended to be longer in older animals than in younger animals. These findings suggest that the distal phalanx is slightly elongated and enlarged in its solear aspect with increasing age in skeletally mature cows. Moreover, although the side difference in the distal phalanx between the lateral and medial digits did not increase significantly with age, the solear aspect of the distal phalanx tended to be rougher, and deformation of the flexor tubercle tended to be more pronounced in the medial digit compared with the lateral digit. Therefore, in the distal phalanx of the front feet, the skeletal deformation with age and asymmetrical bone development might be related to the pathogenesis of claw horn lesions, as in the hind feet.