Premium
A syndrome with multiple malformations, mental retardation, and ACTH deficiency
Author(s) -
Kajantie Eero,
Otonkoski Timo,
Kivirikko Sirpa,
Somer Mirja
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20604
Subject(s) - microcephaly , growth retardation , medicine , pediatrics , hearing loss , adrenal insufficiency , family history , mental deficiency , endocrinology , audiology , pregnancy , biology , psychiatry , genetics
We report on a patient with severe pre‐ and post‐natal growth retardation, moderate mental retardation, microcephaly, unusual face with marked micrognathia and cleft palate, minor skeletal abnormalities, atrioseptal defect, hypospadias, hearing loss, and secondary adrenal insufficiency due to isolated ACTH deficiency diagnosed at 7 years of age. Family history was negative. Adrenal insufficiency is an uncommon feature in multiple malformation syndromes and may thus serve as a diagnostic handle for recognizing other possible patients with a similar syndrome. © 2003 Wiley‐Liss, Inc.