Two patients with Kabuki syndrome presenting with endocrine problems.

TitleTwo patients with Kabuki syndrome presenting with endocrine problems.
Publication TypeJournal Article
Year of Publication2001
AuthorsBereket A, Turan S, Alper G, Comu S, Alpay H, Akalin F
JournalJournal of pediatric endocrinology & metabolism : JPEM
Date Published2001 Feb

A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemiai; a 16 month-old girl with developmental delay presented with bilaterali breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems with a broad spectrum of abnormalities. The facial features of the syndrome are specific and independent of ethnic origin. In addition to presenting with endocrinei problems, the patients reported here exhibit some novel findings such as congenitali alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarchei when associated with developmental delay and a peculiar faciesi.

Alternate JournalJ. Pediatr. Endocrinol. Metab.
Citation Key11305802