Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination.

TitleAnorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination.
Publication TypeJournal Article
Year of Publication2008
AuthorsAbdel-Salam GMH, Afifi HH, Eid MM, el-Badry TH, Kholoussi NM
JournalGenetic counseling (Geneva, Switzerland)
Volume19
Issue3
Pagination309-17
Date Published2008
Abstract

We report a rare combination of anomalies in an Egyptian girl with Kabuki syndrome (KS). The 26-month-old girl had imperforatei anus with rectovestibular fistulai, diaphragmatic defect, congenitali heart defects, cleft palatei, lower lip pits, hypopigmentation, seizures, hypogammaglobulinemiai A, hyperlaxity of joints and premature breast development. This unique combination of anomalies, proposes to carefully investigate cases with KS patient in an attempt to determine their real frequency and in order to improve clinical management. Further, it raises a question about factors determining the variability in phenotypic expression among cases with KS. To our knowledge, this is the first case of KS to be reported from Egypt.

Alternate JournalGenet. Couns.
Citation Key18990987