The two children shown here have the same congenital condition. This disorder presents with increased birth weight, length, and head size, with subsequent rapid growth. Both of these children had early hypotonia with severe motor delays and subsequent clumsy gait, mildly delayed speech-language development, and distinctive craniofacial features—as shown in the Figure. They also had early tooth eruption (their bone age assessed by hand/hemiskeletal radiographs would be accelerated). Their height and weight measurements were at the 97th percentile for age; their head circumference measurement, significantly above the 97th percentile, which provoked concerns about hydrocephalus. Although head size remains large, height and weight often normalize with early pubertal development.
• WHAT IS THE DIAGNOSIS?
• WHAT MEDICAL COMPLICATIONS CAN BE EXPECTED?
