Schneckenbecken dysplasia

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

Skeletal dysplasia

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


合計: 3

                       


（表示件数）
PMID (PMCID)
19508970
(4144354)
 MIXED_SAMPLE
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S.
J Med Genet. 2009;46(8):562-8.
Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias.
15386610
 FEMALE Adult
Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia.
Varkey JJ, Jones RA.
Ultrasound Obstet Gynecol. 2004;24(5):575-7.
The clinical, radiographical and histological features are described for a case of Schneckenbecken dysplasia, presenting antenatally with increased nuchal thickness and severe skeletal dysplasia.
7824994
 FEMALE Infant, Newborn
Case report 870. Schneckenbecken dysplasia, possibly a new variant.
Sillence D, Delprado W, Edwards M, Kozlowski K.
Skeletal Radiol. 1994;23(7):586-8.
We report the case of a newborn with a lethal newborn skeletal dysplasia, in whom skeletal and morphologic findings resembled those in schneckenbecken dysplasia except that the projection of bone from the medial aspect of the iliac bones, resembling the "snail's" head, was absent.