| CASE REPORT |
|
| Year : 2007 | Volume
: 13
| Issue : 3 | Page : 122-124 |
|
|
Mowat-Wilson syndrome in a Moroccan consanguineous family
Ilham Ratbi1, Chafai Siham Elalaoui1, Moal Florence Dastot-Le2, Michel Goossens2, Irina Giurgea2, Abdelaziz Sefiani1
1 Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, Rabat, Morocco
2 Department of Biochemistry and Genetics, AP-HP and INSERM U841-11 Team, Henri Mondor Hospital, 94010 Créteil, France
Correspondence Address:
Ilham Ratbi
Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, Rabat
Morocco
DOI: 10.4103/0971-6866.38988 PMID: 21957361
|
|
|
Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum. This disorder is sporadic and is caused by heterozygous mutations or deletions of the ZFHX1B gene located in the 2q22 region. We report here the first Moroccan patient, born to consanguineous parents, with Mowat-Wilson syndrome, due to a de novo, unreported mutation of the ZFHX1B gene. |
|
|
|
| [FULL TEXT] [PDF]* |
|
 |
|
