Diaphano-spondylo-dysostosis

[MIM 608 022]

Prevalence < 1.106. Autosomal recessive transmission of a mutation the BMPER (7p14.3) gene. Absent ossification of the vertebrae and of the sacrum associated with other various anomalies : short neck, short and large thorax, absence of the posterior part of some ribs,  narrow pelvis, and sometimes other anomalies such as myelomeningocele, cystic kidneys with nephroblastomatosis, epicanthus, low set ears, cleft palate. Death in the perinatal period is usual.


Anesthetic implications:

ventilation problems.


References:


Updated April 2019