Two 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 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.
Jespers
A
A
Department of Neonatal Intensive Care, Children's Hospital, Antwerp, Belgium.
Buntinx
I
I
Melis
K
K
Vaerenberg
M
M
Janssens
G
G
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