engleski

Further delineation of the Toriello Carey syndrome

Toriello-Carey syndrome is a rare multiple malformation/mental retardation syndrome characterised by dysmorphic facial features including telecanthus/hypertelorism, short palpebral fissures, small nose with anteverted nares, malformed ears, and Pierre Robin sequence. Affected patients also show several midline field defects: agenesis of the corpus callosum, laryngeal anomalies, and congenital heart defect. An unbalanced sex ratio was observed and X- linked or sex influenced mode of inheritance was proposed. We summarize 15 so far reported cases and present three new patients with additional findings delineating further the clinical spectrum .Two of our patients were sibs of different sex with a severe phenotype, which argues against the likelihood that this is an X-linked disorder with more severe manifestations in males.

Toriello-Carey syndrome; multiple congenital anomalies; autosomal recessive inheritance

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