Say Syndrome

Say et al. (1975) described a 'new,' presumably autosomal dominant disorder characterized by cleft palate, short stature, microcephaly, large ears, and hand anomalies. A grandfather, 2 of his 5 daughters, and the son of 1 of the affected daughters were affected. The 2 affected females in the second generation had distally tapering fingers with hypoplastic distal phalanges, ulnar deviation of the middle fingers, and low set thumbs. Both had bilateral acromial dimples. The mother had severe micrognathia, which was surgically corrected during early childhood, and cleft palate. Abu-Libdeh et al. (1993) reported the case of a 13-month-old girl with similar features. Proximal renal tubular acidosis with cystic dysplasia of the kidneys was also present. Cystic renal dysplasia was also present in a new case in one of the discordant monozygotic twins reported by Ashton-Prolla and Felix (1997).

Guion-Almeida et al. (1998) reported a 3-year 7-month-old Brazilian boy with this syndrome whose parents were normal and nonconsanguineous. The child had glossoptosis, seizures, and cerebral anomalies, features which were not observed in previous reports.

Pagnan et al. (1999) reported a 12-month-old boy with cleft palate, large ears, microcephaly, distally tapering fingers, length at the 3rd centile, and delayed bone age. Psychomotor development was normal, and no renal anomalies were identified on ultrasonography. The patient's mother had microcephaly, but no other abnormal features. The authors concluded that this patient had Say syndrome and interpreted the microcephaly in the patient's mother as mild expression of the syndrome.