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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1989 Jun;26(6):407–408. doi: 10.1136/jmg.26.6.407

Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.

J A Hurst 1, A C Berry 1, M A Tettenborn 1
PMCID: PMC1015630  PMID: 2472485

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.

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Selected References

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