Fibular aplasia with ectrodactyly--broadening the clinical spectrum

D Gieruszczak-Bialek; M Oldak; A Skorka; J Waligora; L Korniszewski

doi:10.1016/j.ejmg.2005.04.019

Fibular aplasia with ectrodactyly--broadening the clinical spectrum

Eur J Med Genet. 2006 Jan-Feb;49(1):83-6. doi: 10.1016/j.ejmg.2005.04.019. Epub 2005 Jun 20.

Authors

D Gieruszczak-Bialek¹, M Oldak, A Skorka, J Waligora, L Korniszewski

Affiliation

¹ Department of Diabetology, Neonatology and Birth Defects, Warsaw Medical University, Dzialdowska 1, PL-01-184, Warsaw, Poland.

PMID: 16473314
DOI: 10.1016/j.ejmg.2005.04.019

Abstract

Fibular aplasia-ectrodactyly is a rare disorder of the central axis, characterized by shortening of the affected limbs and formation of split hand and/or foot. Here we report on a severely affected case of fibular aplasia with ectrodactyly, in which the upper limb malformations are more pronounced than usually described in sporadic cases.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / diagnosis
Female
Fibula / abnormalities*
Fingers / abnormalities*
Humans
Infant, Newborn
Toes / abnormalities*
Ulna / abnormalities