Trisomy 8 Mosaicism

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.