OTO-PALATO-DIGITAL TYPE-II SYNDROME
- 1 January 1984
- journal article
- research article
- Vol. 27 (2) , 79-82
Abstract
A new case [human] of the recently described oto-palato-digital type II is reported. The characteristic anomalies, the facial dysmorphism, the overlapping and deviation of the digits, the proximal implantation and hypoplasia of the big toe, and the deafness is described. Radiologically, the massive appearance of the bones, their incurvation, their defective modeling are characteristic of the syndrome. Life expectancy is often reduced. X-linked inheritance with minor stigmata in the heterozygous females is well-established.This publication has 1 reference indexed in Scilit:
- A familial syndrome of cranial, facial, oral and limb anomaliesClinical Genetics, 1976