Congenital hypothyroidism, spiky hair, and cleft palate

  • J Med Genet. 1989 Jan;26(1):49-51. doi: 10.1136/jmg.26.1.49.
J S Bamforth  1 ,  I A Hughes ,  J H Lazarus ,  C M Weaver ,  P S Harper
Affiliations
  • 1. Institute of Medical Genetics, University of Wales, College of Medicine, Heath Park, Cardiff.
PMID: 2918525 DOI: 10.1136/jmg.26.1.49
Abstract

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.