engleski

Toriello-Carey syndrome:further delineationa and report of three new cases

Toriello-Carey is a rare multiple malformation/mental retardation syndrome characterised by dysmorphic features including telecanthus/hypertelorism, short palpebral fissures, small nose, 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. Brachydactyly, hypotonia and developmental delay were present in most reported cases. The autosomal recessive inheritance was proposed, but recently X-linked or sex influenced gene disorder was suspected. We report on three patients, two of whom are sibs. Presented patients show clinical findings typical for this condition, but also some additional traits expandiding further the phenotypic spectrum. Affected brother and sister had severe clinical presentation with death in early infancy. The third patient with milder phenotype also showed marked somatic and developmental delay. Specific malformation pattern observed in present patients and in the previously reported cases suggests an early midline developmental field disruption, presumably caused by a developmental regulatory gene mutation

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

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