Say syndrome: Report of a familial case

Abstract

We describe a new case of Say syndrome. This syndrome is an autosomal dominant condition characterized by cleft palate, short stature of prenatal onset, large protruding ears and microcephaly, delayed bone age, and renal anomalies. The first report was in 1975 by Say et al. in three generations of a family. Three additional reports of isolated cases were published. Our propositus is a 12-month-old boy with the cardinal signs of the syndrome whose mother has only microcephaly. To our knowledge this is the second familial report with evidence of highly variable expressivity. The occurrence of renal anomalies in a son of a normal sister of his mother suggests incomplete penetrance.

Bilateral Acromial Dimples: A Case Report and Review of the Literature

“…The original case report published in 1975 (10) described two of the four subjects as having bilateral acromial dimples. None of the reported cases that followed reported a similar occurrence of acromial dimples (11)(12)(13).…”

Unilateral acromial dimple in an infant: A case report and review of the literature

“…Pierre Robin sequence can occur in those affected. Cystic renal dysplasia and proximal renal tubular acidosis have been noted [13]. Cerebral anomalies and seizures have been noted in a case report by Guion-Almeida et al [14].…”