A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.
Am J Med Genet. 1978; 1(4):361-75.AJ

Abstract

A brother and sister presented with an uncommon malformation syndrome consisting of severe midface hypoplasia, congenital heart defect, hydronephrosis, clubfeet, hypertrichosis, hypoplasia of dermal ridges, and radiographic skeletal anomalies in the skull, hands and feet. The boy died shortly after birth; the girl lived for 16 months and exhibited severe failure to thrive, epilepsy, diminished growth, and profound motor and intellectual retardation. Additional observations include postaxial hexadactyly in the girl, and mesomelic brachymelia and peculiar, narrow fingernails in the boy. The occurrence of the syndrome in two sibs of different sex suggests autosomal-recessive inheritance.

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Publisher Full Text

Authors

Schinzel A
No affiliation info available
Giedion A
No affiliation info available

MeSH

Abnormalities, MultipleBone and BonesClubfootFaceFemaleGenes, RecessiveHeart Defects, CongenitalHumansHydronephrosisHypertrichosisInfantInfant, NewbornIntellectual DisabilityMaleSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

665725