Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome).
In 1975 Say et al. (Humangenetik 26:267-269) reported on a new dominantly inherited syndrome of cleft palate, short stature, microcephaly, large ears, and hand anomalies in 4 members of a family. This is a report of a 13-month-old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay. This case appears to be the second report of this syndrome which presumably occurred as a new mutation in this family.
Abu-Libdeh
B
B
Department of Pediatrics, Los Angeles County-University of Southern California Medical Center 90033.
Fujimoto
A
A
Ehinger
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000141:Acidosis, Renal Tubular / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities; D008831:Microcephaly / Q000235:genetics*; D013577:Syndrome