title: Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?
abstract: We describe 2 sibs with multiple congenital anomalies. The main manifestations include hypoplasia of the corpus callosum and/or cerebellar hypoplasia, Robin sequence, pharyngeal and laryngeal hypoplasia, abnormal ears, excessive neck skin, cardiac defect, and Hirschsprung disease. The presence in 2 sibs born to healthy, consanguineous parents suggests autosomal recessive inheritance. These anomalies must have arisen during blastogenesis; the syndrome resembles most the condition described in 1988 by Toriello and Carey.
authors.affiliation: Department of Neonatal Intensive Care, Children's Hospital, Antwerp, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Jespers
authors.forename: I
authors.initials: I
authors.lastname: Buntinx
authors.forename: K
authors.initials: K
authors.lastname: Melis
authors.forename: M
authors.initials: M
authors.lastname: Vaerenberg
authors.forename: G
authors.initials: G
authors.lastname: Janssens
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities; D002972:Cleft Palate; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome