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.

Brachydactyly

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.


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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.