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Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination.
- Source :
-
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2008; Vol. 19 (3), pp. 309-17. - Publication Year :
- 2008
-
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.
- Subjects :
- Adult
Agammaglobulinemia genetics
Child, Preschool
Cleft Palate genetics
Egypt
Female
Follow-Up Studies
Hernia, Diaphragmatic genetics
Humans
Hypopigmentation genetics
Infant
Infant, Newborn
Lip abnormalities
Pregnancy
Puberty, Precocious genetics
Syndrome
Abnormalities, Multiple genetics
Anus, Imperforate genetics
Facies
Rectovaginal Fistula genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1015-8146
- Volume :
- 19
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Genetic counseling (Geneva, Switzerland)
- Publication Type :
- Academic Journal
- Accession number :
- 18990987