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Further delineation of the Toriello-Carey syndrome: A report of two siblings (CROSBI ID 100132)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Barišić, Ingeborg ; Peter, Branimir ; Mikecin, Lili Further delineation of the Toriello-Carey syndrome: A report of two siblings // American journal of medical genetics. Part A, 116A (2003), 2; 188-191. doi: 10.1002/ajmg.a.10808

Podaci o odgovornosti

Barišić, Ingeborg ; Peter, Branimir ; Mikecin, Lili

engleski

Further delineation of the Toriello-Carey syndrome: A report of two siblings

Toriello-Carey is a rare multiple malformation/mental retardation syndrome characterized by dysmorphic features, including telecanthus/hypertelorism, short palpebral fissures, a small nose with anteverted nares, malformed ears, and a Pierre Robin sequence. Affected patients also show several other important signs of midline field disruption: agenesis of the corpus callosum, laryngeal anomalies, and congenital heart defects. Hypotonia and developmental delay are present in most reported cases. Autosomal recessive inheritance was proposed, but an X-linked or sex- influenced gene disorder was also suspected. We report on two siblings, a brother and sister, supporting further an autosomal recessive type of inheritance. Both patients had severe clinical presentation with death in early infancy. Besides clinical findings typical for this condition, they showed additional traits, expanding further the phenotypic spectrum. A specific malformation pattern observed in the patients presented and, in the previously reported cases, suggests an early midline developmental field disruption, presumably caused by a developmental regulatory gene mutation.

Toreillo-Carey syndrome ; congenital malformations ; agenesis of corpus callosum ; congenital heart defect

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Podaci o izdanju

116A (2)

2003.

188-191

objavljeno

1552-4825

1552-4833

10.1002/ajmg.a.10808

Povezanost rada

Javno zdravstvo i zdravstvena zaštita

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