Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.
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.
Hurst
J A
JA
Department of Paediatric Genetics, Institute of Child Health, London.
Berry
A C
AC
Tettenborn
M A
MA
D000015:Abnormalities, Multiple / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome