Congenital hypothyroidism, spiky hair, and cleft palate.
Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome.
Bamforth
J S
JS
Institute of Medical Genetics, University of Wales, College of Medicine, Heath Park, Cardiff.
Hughes
I A
IA
Lazarus
J H
JH
Weaver
C M
CM
Harper
P S
PS
D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics*; D006197:Hair / Q000648:ultrastructure; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D013960:Thyroid Function Tests; D013961:Thyroid Gland / Q000002:abnormalities