Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.

TitleKabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.
Publication TypeJournal Article
Year of Publication2002
AuthorsShotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S
JournalAmerican journal of medical genetics
Volume110
Issue4
Pagination384-90
Date Published2002 Jul 15
Abstract

We describe six Thai children with the Kabuki syndrome. Monozygotic twin boys discordant for the syndrome were encountered in a family. The affected twin had all five cardinali features of the syndrome, whereas the unaffected twin had none of them. The presence of monozygotic twins discordant for the syndrome argues against a single genei origin of the disorder, but by no means excludes it. In another family, a mother had a facial appearance similar to her affected son. Lower lip pits with or without symmetrical lower lip nodules were present in three of the six children, and pilonidal sinusi was seen in five children. These clinical manifestations were much more common than previously described. Other inconsistent findings included early eruption of the lower central incisorsi, a skin defect of the head, and transient hyperthyrotropinemia in infancy.

Alternate JournalAm. J. Med. Genet.
Citation Key12116214