Ossification Anomalies-Psychomotor Developmental Delay Syndrome

Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.

Epidemiology

It has been described in two brothers and was present at birth.

Clinical description

The surviving boy displayed progressive osteopaenia, slow healing of the periostal anomalies, hepatic angiomas, a thoracic deformity, delayed tooth eruption, progressive microcephaly with dilation of the cerebral ventricles, and mental and motor delay.