The first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots.

TitleThe first case of Niikawa-Kuroki syndrome in Kazakhstan associated with café au lait spots.
Publication TypeJournal Article
Year of Publication2009
AuthorsAl Mosawi AJ, Fewin L
JournalGiornale italiano di dermatologia e venereologia : organo ufficiale, Società italiana di dermatologia e sifilografia
Volume144
Issue5
Pagination613-5
Date Published2009 Oct
ISSN0026-4741
KeywordsAbnormalities, Multiple, Cafe-au-Lait Spots, Child, Preschool, Craniofacial Abnormalities, Humans, Kazakhstan, Male, Phenotype, Syndrome
Abstract

Niikawa-Kuroki syndrome (Kabuki syndrome) is a multiple congenitali anomalyi syndrome of unknown etiologyi with a very wide spectrum of abnormalities and severity. The aim of this paper was to report the first case of the syndrome in Kazakhstan associated café au lait. Five year and half old boy from Kazakhstan (Uzbek-of Turk ethnicity) presented with dysmorphic facial features (long palpebral fissuresi, a broad and depressed nasali tip, large prominent earlobes, small head, epicanthic folds short stature, delayed language development, hypotonia, bilaterali developmental dysplasiai of the hip (DDH), large ears and triangular chin, café au lait spots. The clinical diagnosis was based on the triad of characteristic facial abnormalities (long palpebral fissures, a broad and depressed nasal tip, large prominent earlobes, small head), growth retardation, (DDH). In this paper the authors report the first case of Kabuki syndrome associated with café au lait spots.

Alternate JournalG Ital Dermatol Venereol
Citation Key396