Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?

Am J Med Genet. 1993 Aug 15;47(2):299-302. doi: 10.1002/ajmg.1320470232.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Agenesis of Corpus Callosum
  • Brain / abnormalities*
  • Cerebellum / abnormalities
  • Cleft Palate
  • Diagnosis, Differential
  • Face / abnormalities
  • Genes, Recessive
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Hirschsprung Disease / genetics*
  • Humans
  • Hypertelorism
  • Infant, Newborn
  • Male
  • Syndrome