title: Bamforth syndrome: is porencephaly a new finding?
abstract: Bamforth syndrome is a rare inherited condition whose main features are congenital hypothyroidism due to thyroid dysplasia, cleft palate, and spiky hair, with or without choanal atresia and bifid epiglottis. This syndrome is caused by mutations in the gene encoding thyroid transcription factor 2 (TTF-2). Here we report on a newborn with facial dysmorphism, cleft palate, spiky hair, congenital hypothyroidism and that are observed with Bamforth syndrome. This is the first case with Bamforth syndrome in which porencephaly has been observed.
authors: Süleyman Demirel University Medical School, Pediatrics Department, Isparta, Turkey. kocabasgonca@mynet.com
authors: G
authors: G
authors: Sandal
authors: Süleyman Demirel University Medical School, Pediatrics Department, Isparta, Turkey.
authors: O
authors: O
authors: Pirgon
authors: Süleyman Demirel University Medical School, Pediatrics Department, Isparta, Turkey.
authors: A R
authors: AR
authors: Ormeci
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000175:diagnosis / Q000209:etiology*; D002972:Cleft Palate / Q000150:complications* / Q000175:diagnosis; D024141:Collagen Type IV / Q000172:deficiency*; D003241:Consanguinity; D006201:Hair Diseases / Q000150:complications* / Q000175:diagnosis; D006429:Hemiplegia / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007037:Hypothyroidism / Q000150:complications* / Q000175:diagnosis; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D010808:Physical Examination / Q000379:methods; D065708:Porencephaly
chemical_list: D024141:Collagen Type IV