Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.
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 cardinal 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 gene 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 sinus 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 incisors, a skin defect of the head, and transient hyperthyrotropinemia in infancy.
Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand. vorasuk.s@chula.ac.th
Vorasuk
V
Shotelersuk
Rachaneekorn
R
Punyashthiti
Sumarlee
S
Srivuthana
Suttipong
S
Wacharasindhu
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D010641:Phenotype; D012868:Skin Abnormalities; D013577:Syndrome; D013785:Thailand; D014430:Twins, Monozygotic / Q000235:genetics