A syndrome with multiple malformations, mental retardation, and ACTH deficiency.
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.
Kajantie
Eero
E
Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland. eero.kajantie@helsinki.fi
Otonkoski
Timo
T
Kivirikko
Sirpa
S
Somer
Mirja
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000307:Adrenal Gland Diseases / Q000235:genetics; D000324:Adrenocorticotropic Hormone / Q000172:deficiency*; D000328:Adult; D002648:Child; D002658:Developmental Disabilities; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D013577:Syndrome
D000324:Adrenocorticotropic Hormone