Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers

We describe two brothers born to consanguineous parents, who presented with hypotonia and hypoglycaemia in the neonatal period and later developed obesity and developmental delay. They had brachydactyly and similar facial features including a prominent forehead, low nasal bridge, midface hypoplasia, full lips, a small mouth, and small, low set ears with overfolded helices. Their sister had mild learning disabilities. No additional anomalies were found, and metabolic investigations including peroxisomal functions gave normal results. We suggest the patients have a hitherto unreported condition, with an autosomal or X-linked mode of inheritance.