PMID: 3757305Aug 1, 1986Paper

Peculiar face, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation; a new autosomal recessive syndrome?

Clinical Genetics
A IeshimaM Inagaki

Abstract

Two siblings with peculiar facies, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation were reported. The similarity of both the dysmorphic features and the clinical course suggests a new syndrome, which inheritance is considered to be autosomal recessive.

References

Jan 1, 1975·Zeitschrift Für Kinderheilkunde·V P Johnson
Jan 1, 1978·American Journal of Medical Genetics·S J Funderburk, R Stewart
Sep 1, 1969·American Journal of Diseases of Children·D BixlerR J Gorlin
Jun 1, 1984·Jinrui idengaku zasshi. The Japanese journal of human genetics·A IeshimaK Takeshita
Aug 1, 1983·American Journal of Medical Genetics·N FitchR Gorlin
Feb 1, 1964·The Journal of Pediatrics·D W SMITHJ M OPITZ

❮ Previous
Next ❯

Citations

Nov 1, 1987·American Journal of Medical Genetics·P MeineckeA Rodewald
Mar 7, 2000·Pediatrics International : Official Journal of the Japan Pediatric Society·D R BertolaC H Gonzalez
Jan 1, 1990·American Journal of Medical Genetics. Supplement·R C HennekamH G Van Spijker

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.