Cochlea dysplasia

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Classification according to ICD-10
Q77.7 Dysplasia spondyloepiphysaria
ICD-10 online (WHO version 2019)

The worm pelvic dysplasia is a very rare, to the lethal forms of chondrodysplasia associated congenital disease with the main features of a skeletal dysplasia and eye-catching form of hypoplasia of the pelvis.

Synonyms are: chondrodysplasia with a snail-like pelvis; SLC35D1-CDG; english Chondrodysplasia lethal neonatal with snail like pelvis

The name was suggested by the authors of the first description from 1986 by the US human geneticist Z. Borochowitz and colleagues based on the appearance of the pelvic skeleton in the X-ray image .

distribution

The frequency is given as less than 1 in 1,000,000, so far about 20 patients have been described. Inheritance is autosomal - recessive .

root cause

The disease are mutations in SLC35D1 - gene on chromosome 1 locus p31.3 basis that the UDP-GlcA / UDP-GalNAc transporter encoded.

In 2015 another mutation was detected in the INPPL1 gene on chromosome 11 locus 13.4.

Clinical manifestations

Clinical criteria are:

diagnosis

Characteristic findings in the X-ray are:

  • helical, hypoplastic pelvis
  • Hypoplasia of the shoulder blade
  • Hook laterally on the collarbone
  • Flattened molars
  • flattened, hypoplastic vertebral bodies
  • short ribs
  • short and widened fibula
  • shortened and widened long bones with a dumbbell-like appearance
  • prematurely ossified tarsus

Differential diagnosis

Other forms of chondrodysplasia are to be distinguished.

literature

  • T. Furuichi, H. Kayserili, S. Hiraoka, G. Nishimura, H. Ohashi, Y. Alanay, JC Lerena, AD Aslanger, H. Koseki, DH Cohn, A. Superti-Furga, S. Unger, S. Ikegawa : Identification of loss-of-function mutations of SLC35D1 in patients with snail basin dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. In: Journal of medical genetics , Volume 46, No. 8, August 2009, pp. 562-568, doi: 10.1136 / jmg.2008.065201 , PMID 19508970 , PMC 4144354 (free full text).
  • PG Nikkels, RH Stierter, IE Knol, HJ van der Harten: Schneckenbecken dysplasia, radiology, and histology. In: Pediatric radiology , Vol. 31, No. 1, January 2001, pp. 27-30, doi: 10.1007 / s002470000357 , PMID 11200994 .
  • A. Lahmar-Boufaroua, MT Yacoubi, L. Belaid, AL Delezoide: Snail basin dysplasia in fetus: report of four cases. In: Fetal diagnosis and therapy , Volume 25, No. 2, 2009, pp. 216-219, doi: 10.1159 / 000214860 , PMID 19407457 .

Individual evidence

  1. ↑ a b c Snail basin dysplasia. In: Orphanet (Rare Disease Database).
  2. ^ Z. Borochowitz, KL Jones, R. Silbey, G. Adomian, R. Lachman, DL Rimoin: A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. In: American journal of medical genetics , Volume 25, No. 1, September 1986, pp. 47-59, doi: 10.1002 / ajmg.1320250107 , PMID 3799723 .
  3. ↑ Snail basin dysplasia.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ H. Lee, L. Nevarez, RS Lachman, WR Wilcox, D. Krakow, DH Cohn: A second locus for snails pool dysplasia IDENTIFIED BY A mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). In: American journal of medical genetics. Part A , Volume 167A, No. 10, October 2015, pp. 2470-2473, doi: 10.1002 / ajmg.a.37173 , PMID 25997753 , PMC 5036935 (free full text).
  5. ^ Rare Diseases