Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.
- 1 June 1989
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (6) , 407-408
- https://doi.org/10.1136/jmg.26.6.407
Abstract
We report a brother and sister born to non-consanguineous parents. They both had an atrial septal defect and ventricular septal defect. In addition they had short stature, microcephaly, developmental delay, and the same dysmorphic facial appearance of a short nose, epicanthic folds, a long philtrum, and narrow upper lip. The boy had bilateral choanal hypoplasia and stenosis.Keywords
This publication has 3 references indexed in Scilit:
- Choanal atresia and associated multiple anomaliesThe Journal of Pediatrics, 1979
- A newly recognized syndromeof multiple congenital anomaliesThe Journal of Pediatrics, 1964
- Supravalvular Aortic StenosisCirculation, 1961