✦ LIBER ✦
Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello-Carey or new syndrome?
✍ Scribed by Jespers, A. ;Buntinx, I. ;Melis, K. ;Vaerenberg, M. ;Janssens, G.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 382 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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