Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?

Abstract excerpt

We report four patients from two unrelated families with strikingly similar facial appearance, short stature, narrow body build and, in two of the patients, abnormalities of the iris stroma. The birth of an affected offspring suggests that this syndrome is likely to have autosomal dominant inheritance. The facial appearance and some of the features resemble the SHORT syndrome, the name being an acronym for Short...

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