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.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.

Total: 2

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PMID (PMCID)
28815954	MALE	Child
	Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years.
	Legare JM, Seaborg K, Laffin J, Giampietro PF. Am J Med Genet A. 2017;173(10):2808-2813.
	Diaphanospondylodysostosis (DSD) and ischiospinal dysostosis (ISD) are both rare skeletal dysplasias consisting of abnormal axial skeletal development but normal appendicular skeletal development.
22469945 (3394881)	MALE
	Development of anaplastic Wilms tumor and subsequent relapse in a child with diaphanospondylodysostosis.
	Tasian SK, Kim GE, Miniati DN, DuBois SG. J Pediatr Hematol Oncol. 2012;34(7):548-51.
	Diaphanospondylodysostosis (DSD) is a rare skeletal dysplasia syndrome resulting from disordered mesenchymal differentiation.