[Phenyketonuria associated with Rubinstein-Taybi syndrome, spondylic dysplasia, left vascular shrinking of adrenal gland (author's transl)].
Report of a 10 year old girl, who demonstrated the following diseases independent from each other: Phenylketonuria, Rubinstein-Taybi syndrome, dysplasias of the skeleton, especially dysplasia of the vertebra and finally, left-sided shrinkes adrenal gland, which caused presumably an increased production of androgens with a premature pubarche.
D000015:Abnormalities, Multiple / Q000150:complications* / Q000000981:diagnostic imaging; D000307:Adrenal Gland Diseases / Q000150:complications*; D002648:Child; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000150:complications*; D010661:Phenylketonurias / Q000150:complications*; D011859:Radiography; D012415:Rubinstein-Taybi Syndrome / Q000150:complications*; D013122:Spinal Diseases / Q000150:complications*; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome
Phenylketonurie assoziiert mit Rubinstein-Taybi Syndrom, spondylärer Dysplasie, linksseitiger vasculärer Schrumpfnebenniere.