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.

Short ribs

Reduced rib length.


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PMID (PMCID)
29445489
(5799658)
 OTHER
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.
Hofstaetter C, Courage C, Bartholdi D, Biskup S, Raio L.
Clin Case Rep. 2018;6(2):420-425.
We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester.