Delineation of the da-Silva syndrome.
We present a 6-month-old boy with agenesis of the corpus callosum, hypertonicity, severe growth and psychomotor retardation, microcephaly, large prominent ears, and delayed bone age. Similarity of his manifestations to these in 3 sibs described by da-Silva in 1988 suggests initial delineation of the da-Silva syndrome.
Naritomi
K
K
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
Tohma
T
T
Goya
Y
Y
Shiroma
N
N
Hirayama
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002648:Child; D004431:Ear, External / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome