Toriello-Carey syndrome

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

Retrognathia

An abnormality in which the mandible is mislocalised posteriorly.


合計: 2

                       


（表示件数）
PMID (PMCID)
19852430
 MALE Infant, Newborn
Toriello-Carey syndrome in a Turkish newborn.
Uras N, Sandal G, Oguz S, Aydemir O, Erdeve O, Dilmen U.
Genet Couns. 2009;20(3):243-7.
Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia.
19852430
 MALE Infant, Newborn
Toriello-Carey syndrome in a Turkish newborn.
Uras N, Sandal G, Oguz S, Aydemir O, Erdeve O, Dilmen U.
Genet Couns. 2009;20(3):243-7.
Toriello-Carey syndrome in a Turkish newborn: Toriello-Carey syndrome is characterized by agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia.