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.
Rozendaal
Lieke
L
Department of Pediatrics and Clinical Genetics, Academic Medical Center, Meibergdreef 15, 1105 AZ Amsterdam, the Netherlands.
Del Canho
Harry
H
Waterham
Hans R
HR
Hennekam
Raoul C M
RC
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology*; D005147:Facial Bones / Q000002:abnormalities*; D019066:Facies; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics / Q000473:pathology*; D009765:Obesity / Q000235:genetics / Q000473:pathology*; D035781:Siblings