Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.
Title | Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. |
Publication Type | Journal Article |
Year of Publication | 2002 |
Authors | Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S |
Journal | American journal of medical genetics |
Volume | 110 |
Issue | 4 |
Pagination | 384-90 |
Date Published | 2002 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 Journal | Am. J. Med. Genet. |
Citation Key | 12116214 |
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