Diaphanospondylodysostosis

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

Genetic counseling

As some patients were born to consanguineous parents, this disorder is likely to be transmitted as an autosomal recessive trait.

Prognosis

The patients are stillborn or die soon after birth of respiratory insufficiency.