Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello‐Carey or new syndrome?
- 15 August 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 47 (2) , 299-302
- https://doi.org/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 (Am J Med Genet 31:17–23).Keywords
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