title: Further delineation of the Toriello-Carey syndrome: a report of two siblings.
abstract: 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.
authors.affiliation: Division of Clinical Genetics, Department of Pediatrics, Children's University Hospital, Zagreb, Croatia. ibarisic@kdb.hr
authors.forename: Ingeborg
authors.initials: I
authors.lastname: Barisic
authors.forename: Branimir
authors.initials: B
authors.lastname: Peter
authors.forename: Lili
authors.initials: L
authors.lastname: Mikecin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000473:pathology*; D007830:Larynx / Q000002:abnormalities; D008297:Male; D035781:Siblings; D013577:Syndrome