Schneckenbecken dysplasia

Definition:

Schneckenbecken dysplasia is a severe skeletal dysplasia that leads to perinatal death. The characteristic is the snail-like configuration of the hypoplastic iliac bones. Patients also have limbs with extremely short long bones and flat vertebratal bodies. Loss-of-function mutations in SLC35D1 gene impair the transporter activity of nucleotide sugars in Schneckenbecken dysplasia. The disease is inherited as an autosomal recessive trait.

References:

[1]. J J Varkey, et al. Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia. Ultrasound Obstet Gynecol. 2004 Oct;24(5):575-7. [Content Brief]

[2]. P G Nikkels, et al. Schneckenbecken dysplasia, radiology, and histology. Pediatr Radiol. 2001 Jan;31(1):27-30. [Content Brief]

[3]. Shuichi Hiraoka, et al. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med. 2007 Nov;13(11):1363-7. [Content Brief]

[4]. T Furuichi, et al. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet. 2009 Aug;46(8):562-8. [Content Brief]

[5]. Z Borochowitz, et al. A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. Am J Med Genet. 1986 Sep;25(1):47-59. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.