2 SIBLINGS WITH MIDLINE FIELD DEFECTS AND HIRSCHSPRUNG DISEASE - VARIABLE EXPRESSION OF TORIELLO-CAREY OR NEW SYNDROME

We describe 2 sibs with multiple congenital anomalies. The main manife stations include hypoplasia of the corpus callosum and/or cerebellar h ypoplasia, Robin sequence, pharyngeal and laryngeal hypoplasia, abnorm al ears, excessive neck skin, cardiac defect, and Hirschsprung disease . The presence in 2 sibs born to healthy, consanguineous parents sugge sts autosomal recessive inheritance. These anomalies must have arisen during blastogenesis; the syndrome resembles most the condition descri bed in 1988 by Toriello and Carey (Am J Med Genet 31:17-23). (C) 1993 Wiley-Liss, Inc.