Schneckenbecken dysplasia
Definicija
Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.
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Pun naziv
Schneckenbecken dysplasia
Kratki naziv
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Sinonimi
SLC35D1-CDG_x000D_Chondrodysplasia with snail-like pelvis
Orpha broj
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
NULL
Nasleđivanje
Autosomal recessive
Period početka bolesti
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ICD 10
OMIM
UMLS
GARD
MEDDRA
Tekstualni opis
The typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.
Etiologija
This syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
Less than 20 cases have been reported in the literature so far.
Genetsko savetovanje
Schneckenbecken dysplasia is transmitted in an autosomal recessive manner.
Terapija
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Klinička istraživanja
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