Global Developmental Delay, Congenital Deafness, and Club Feet - Abstract
Primary care pediatricians see a wide spectrum of children with developmental delay with and without dysmorphic features. Searching for a genetic cause can be challenging. We describe a 24 month old child with global developmental delay, congenital nystagmus, deafness, and club feet. Because chromosomal microarrayanalysis (CMA) provides a higher diagnostic yield (15-20%) than conventional G-band karyotype analysis (3%), we performed CMA and diagnosed our patient with a chromosome 18 deletion, DeGrouchy Syndrome.