Multiple congenital abnormalities including peculiar facies, hand and foot digital deformities, and absent patellae were noted in a small-for-gestational age male infant. Suspicion of the group C mosaicism syndrome was confirmed by chromosomal analysis and banding studies that disclosed a chromosome number 8 mosaicism. The infant subsequently developed hydrocephalus that was treated by ventriculoperitoneal shunting. Additional features in this infant included esotropia, blepharophimosis, and gingival hypertrophy with cleft formation. Developmental evaluation demonstrated a mild delay in the personal, social, and language function, whereas, the gross-motor and fine-motor adaptative fields were more severely retarded.
Walravens PA, Greensher A, Sparks JW, Wesenberg RL. Trisomy 8 Mosaicism. Am J Dis Child. 1974;128(4):564–566. doi:10.1001/archpedi.1974.02110290134024
Artificial Intelligence Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.