engleski

Toriello-Carey syndrome in two siblings: further delineation and confirmation of an autosomal recessive inheritance

Toriello-Carey syndrome is a rare genetic disorder characterized by agenesis of corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Pierre Robin sequence, abnormally shaped ears, laryngeal anomalies, heart defect, hypotonia and developmental delay. The inheritance has been described as autosomal recessive, but the predominance of affected males and the milder phenotypic expression observed in the females recently led Czarnecki et al to suspect an X-linked or sex influenced gene disorder. We report on two severely affected sibs, brother and sister, with most of the clinical findings present in Toriello-Carey syndrome that show further expansion of the phenotypic spectrum. Present patients and the review of the previously reported cases suggests a developmental field disruption and resulting in the specific malformation pattern.

MCA/MR syndrome; Toriello Carey syndrome

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