BACKGROUND Polydactyly is a congenital anomaly with a wide range of manifestations that occurs in many forms, ranging from varying degrees of mere splitting to completely duplicated thumb. When duplication occurs alone, it is usually unilateral and sporadic. CASE PRESENTATION In this case report we describe an otherwise healthy 19-year-old woman of Tibetan heritage with isolated left hand pre...

the ellis-van creveld (evc) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. it is a rare condition, with very few cases reported in the medical literature. it is inherited as an autosomal re...

how to cite this article: singhal r, pandit s, saini a, singh p, dhawan n. the acrocallosal syndrome in a neonate with further widening of phenotypic expression. iran j child neurol. 2014 spring;8(2):60-64.   the presentation of the typical characteristics of the acrocallosal syndrome (acls) are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic cranio...

chondroectodermal dysplasia (ellis-van creveld syndrome) is a rare autosomal recessive congenital abnormality. this syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. it is imperative to not overlook the cardiac complications in patients with this syndrome during den...

BACKGROUND The Bilhaut-Cloquet operation is a combined surgical procedure for the treatment of a symmetric bifid thumb. Although this procedure can obtain a normal-sized thumb with a stable interphalangeal joint, it has limitations, such as the technical difficulty of combining all segments of a duplicated thumb, possible later physeal growth arrest, joint stiffness, and nail-plate deformity. W...

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, post-axial polydactyly, renal abnormalities, mental retardation, pigmentary retinopathy and hypogenitalism. Diagnosis is rare in early childhood, and only few of the features are present at that age. This is because the disease is slow evolving. However, it is possible to find majority of the componen...