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.

Telecanthus

Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.


合計: 5

                       


（表示件数）
PMID (PMCID)
23873869
 MALE Infant, Newborn
A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.
Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N.
Am J Med Genet A. 2013;161A(9):2291-3.
Toriello-Carey syndrome is rare condition characterized by agenesis of the corpus callosum, the Pierre Robin sequence, and facial anomalies such as telecanthus, short palpebral fissures, and a small nose with anteverted nares [Toriello and Carey, 1988].
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.
11169567
 FEMALE Infant, Newborn
Toriello-Carey syndrome: case report with additional findings.
Aftimos S, McGaughran J.
Am J Med Genet. 2001;98(3):273-6.
Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, small palpebral fissures, Pierre Robin sequence, abnormal ears, nuchal laxity and cardiac defects.
10564882
 FEMALE Infant, Newborn
Two sisters with Toriello-Carey syndrome.
Chinen Y, Tohma T, Izumikawa Y, Taketomi H, Iha T, Ohta T, Naritomi K.
Am J Med Genet. 1999;87(3):262-4.
Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormally shaped ears, cardiac defect, and hypotonia.