Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism

I M Buntincx; B Van Overmeire; K Desager; J Van Hauwaert

doi:10.1136/jmg.30.5.427

Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism

J Med Genet. 1993 May;30(5):427-8. doi: 10.1136/jmg.30.5.427.

Authors

I M Buntincx¹, B Van Overmeire, K Desager, J Van Hauwaert

Affiliation

¹ Department of Medical Genetics, University of Antwerp, Belgium.

Abstract

We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome.

Publication types

Case Reports
Review

MeSH terms

Abnormalities, Multiple / diagnosis*
Choanal Atresia / diagnosis*
Cleft Palate / diagnostic imaging*
Congenital Hypothyroidism
Female
Hair / abnormalities*
Hair / ultrastructure
Humans
Hypothyroidism / diagnosis*
Infant, Newborn
Magnetic Resonance Imaging
Microscopy, Electron, Scanning
Syndrome
Tomography, X-Ray Computed