title: Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination.
abstract: We report a rare combination of anomalies in an Egyptian girl with Kabuki syndrome (KS). The 26-month-old girl had imperforate anus with rectovestibular fistula, diaphragmatic defect, congenital heart defects, cleft palate, lower lip pits, hypopigmentation, seizures, hypogammaglobulinemia 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.
authors.affiliation: Clinical Genetics Department, National Research Centre, Cairo, Egypt. ghada.abdelsalam@yahoo.com
authors.forename: G M H
authors.initials: GM
authors.lastname: Abdel-Salam
authors.forename: H H
authors.initials: HH
authors.lastname: Afifi
authors.forename: M M
authors.initials: MM
authors.lastname: Eid
authors.forename: T H
authors.initials: TH
authors.lastname: el-Badry
authors.forename: N M
authors.initials: NM
authors.lastname: Kholoussi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000361:Agammaglobulinemia / Q000235:genetics; D001006:Anus, Imperforate / Q000235:genetics*; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics; D004534:Egypt; D019066:Facies; D005260:Female; D005500:Follow-Up Studies; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008046:Lip / Q000002:abnormalities; D011247:Pregnancy; D011629:Puberty, Precocious / Q000235:genetics; D012006:Rectovaginal Fistula / Q000235:genetics*; D013577:Syndrome