ellis–van creveld (evc) syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. in the present article, we hereby present a case of a 13‑year‑old girl of indian ethnicity with evc syndrome with a remarkable number of classical oral and ...

Growth and performance Prenatal onset growth deficiency + + Psychomotor retardation + + Decreased visual responsiveness + + Hearing loss + + Craniofacies Microcephaly + + Triangular face + + Micrognathia + + Prominent nasal bridge 0 + Hypoplastic nasal alae + Eyes Ptosis + + Short palpebral fissures 0 + Epicanthal folds + + Upward slanting palpebral fissures + Ears Malformed + + Preauricular pi...

Trisomy 13 is a chromosomal disorder characterized by a severe clinical picture of multiple congenital anomalies. We here describe the clinical and genetic features and prognosis observed in a newborn with trisomy 13 from Central Africa. He presented the rare feature of preaxial polydactyly of the feet.

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (SmithLemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance

Cleft hand is an anomaly in which the primary feature is oligodactyly, and it is considered an important congenital malformation. The authors have analyzed the cases they have handled and developed an independent classification based on the number of defective digits. It has been ascertained that the clinical symptoms correlate with the number of defective digits, and a regular pattern was obse...

Figure 1. Left and right hands with ulnar polysyndactyly. Categorized as type V under the Duran classification.