Bahari Hanae, Zahiri Hind, Elouali Aziza, Rkain Maria, Babakhouya Abdeladim
Department of Pediatrics, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, Mohammed I University of Oujda, Oujda, MAR.
Cureus. 2024 Nov 19;16(11):e74007. doi: 10.7759/cureus.74007. eCollection 2024 Nov.
Cornelia de Lange syndrome is a genetic disorder that affects multiple systems. It is characterized by growth delays and psychomotor retardation associated with various anomalies, including hirsutism, facial dysmorphism, cardiac abnormalities, upper-extremity malformations, and gastrointestinal disorders. Early detection and appropriate management of associated disorders are essential for achieving favorable outcomes. We present our first case of Cornelia de Lange syndrome, diagnosed at the age of nine years in the Pediatrics Department of Mohammed VI University Hospital in Oujda, Morocco.
科妮莉亚·德·朗格综合征是一种影响多个系统的遗传性疾病。其特征为生长发育迟缓以及与多种异常相关的精神运动发育迟缓,这些异常包括多毛症、面部畸形、心脏异常、上肢畸形和胃肠道疾病。对相关疾病进行早期检测和适当管理对于取得良好预后至关重要。我们报告了首例科妮莉亚·德·朗格综合征病例,该病例在摩洛哥乌季达穆罕默德六世大学医院儿科于9岁时被诊断出来。