Chromosome number 8 mosaicism. The absent patella. Multiple malformation syndrome

Multiple congenital abnormalities to include peculiar facies, hand and foot digital deformities, and absent patellae were noted in a small for gestational age male infant. Suspicion of trisomy 8 mosaicism syndrome was confirmed by chromosomal analysis and current banding studies. The infant subsequently developed hydrocephalus which was treated by ventriculo peritoneal shunting. Additional features in this infant include microphthalmia, blepharophimosis and gingival hypertrophy with cleft formation. Developmental evaluation at 5 mth of age showed good personal, social and language function whereas the gross motor and fine motor adaptative fields were at the 2-3 mth level. This confirms the relatively mild nature of the mental retardation aspect of this syndrome.