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.

Pierre-Robin sequence

Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.


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PMID (PMCID)
27748028
 FEMALE
A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.
Xie L, Luo X, Yang J, Wang J, Nie C, Wang Z.
Am J Med Genet A. 2017;173(3):721-726.
Toriello-Carey syndrome (T-CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, unusual facial appearance, and other anomalies.
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].
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.