A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies.

Open Access

1 December 1979

journal article
case report
Published by BMJ in Journal of Medical Genetics

Vol. 16 (6) , 483-486
https://doi.org/10.1136/jmg.16.6.483

Abstract

The clinical and radiological features of a male child with multiple malformations are described. He appears to be an example of a new syndrome recently described by Schinzel and Giedion (1978).

Keywords

MALE
CHILD
ANOMALIES
MALFORMATIONS
SKELETAL
HYPERTRICHOSIS
MIDFACE
RADIOLOGICAL
NEW SYNDROME
SCHINZEL

This publication has 1 reference indexed in Scilit:

A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs
American Journal of Medical Genetics, 1978