The first case of Temtamy Syndrome in a Moroccan family

Auteurs-es

  • ghizlane zouiri unité de neuropédiatrie et de maladies neurométaboliques, service Pédiatrie 2, Hôpital d'Enfants de Rabat, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed V Souissi Rabat

Résumé

Temtamy syndrome is an extremely rare syndromic form of intellectual disability with craniofacial dysmorphism, absent corpus callosum and iris coloboma. We report the first Moroccan case described with Temtamy syndrome presenting a typical dysmorphism with profound developmental and cognitive delay without epilepsy. The genetic diagnosis in the proband was made by whole exome sequencing WES.

Fichiers supplémentaires

Publié-e

13-04-2021

Numéro

Rubrique

Brèves Communications