This is a disorder primarily of the skull and long bones.
Infants are born with a normal appearing skull which later becomes abnormally large. Newborns may have multiple fractures of the ribs and bones of the limbs. Such fractures may also occur as children grow due to the deficiency of normal bone formation. Sometimes these become deformed and children may be short in stature. The bones of the skull are weak due to poor bone formation. Intelligence is normal in the few patients reported.
The jaw appears to recede and the midface (cheeks) is underdeveloped giving the face a flattened appearance. The eye sockets end up being shallow giving the eyes a ‘bulging’ appearance. The openings between the lids slant downward.
This condition is apparently due to changes (mutations) in a specific gene. Only a few patients have been reported and all have had mutations in both copies, one contributed by each parent. When both parents, who are clinically normal, each have one copy of the changed gene they can expect that 1 in 4 of their children will have this autosomal recessive disorder.
The diagnosis is suggested by the presence of fractures in the limb bones and perhaps the ribs at birth. Orthopedists and pediatricians are likely to collaborate in the evaluation and treatment of such children. Contact sports should be prohibited and helmets worn to protect the skull. Fractures must be treated promptly.