Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.
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.
Buntincx
I M
IM
Department of Medical Genetics, University of Antwerp, Belgium.
Van Overmeire
B
B
Desager
K
K
Van Hauwaert
J
J
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002754:Choanal Atresia / Q000175:diagnosis*; D002972:Cleft Palate / Q000000981:diagnostic imaging*; D003409:Congenital Hypothyroidism; D005260:Female; D006197:Hair / Q000002:abnormalities* / Q000648:ultrastructure; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis*; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008855:Microscopy, Electron, Scanning; D013577:Syndrome; D014057:Tomography, X-Ray Computed