OUR interest in neonatal dwarfism was aroused by the presentation of a deformed neon ate with short upper limbs and flapper-like lower limbs. We were unable to diagnose that baby. That was three years ago, since then we have seen one case of short rib polydactyly syndrome, one case of chondrodysplasia puncta or Conradi's disease and one of neonatal osteopetrosis. Our most recent addition is a c...

Ellis-van Creveld syndrome (EVC) is a rare chondroectodermal dysplasia presenting several skeletal manifestations and congenital heart malformations. Polydactyly is the most frequent skeletal anomaly. The authors report two cases of EVC syndrome with different manifestations, which underwent surgical treatment for polydactyly.

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...

Two sibs are described, the first of whom presented the classic Meckel syndrome triad of encephalocele, postaxial polydactyly, and characteristic renal cystic changes. The second sib had none of these abnormalities, but did show urethral atresia and preaxial polydactyly, two features previously described in some patients with Meckel syndrome. The two cases illustrate both the wide phenotypic sp...

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...