Literature DB >> 11200994

Schneckenbecken dysplasia, radiology, and histology.

P G Nikkels1, R H Stigter, I E Knol, H J van der Harten.   

Abstract

To our knowledge this is the first report of Schneckenbecken dysplasia with the development of hydrops early in the second trimester. The radiological findings showed the typical hypoplastic iliac bones with medial extension and very flattened, on lateral view, oval-shaped vertebral bodies and short long bones. The histology showed hypercellular and hypervascular cartilage with chondrocytes with centrally located nucleus. The absence of the lacunar space as described before was also observed in some chondrocytes in our case. This male fetus was the product of consanguineous parents of Mediterranean origin compatible with autosomal recessive inheritance.

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Year:  2001        PMID: 11200994     DOI: 10.1007/s002470000357

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  5 in total

1.  Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.

Authors:  Ugo E Pazzaglia; Carla M Donzelli; Claudia Izzi; Maurizia Baldi; Giuseppe Di Gaetano; MariaPia Bondioni
Journal:  Skeletal Radiol       Date:  2014-05-25       Impact factor: 2.199

2.  A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Authors:  Hane Lee; Lisette Nevarez; Ralph S Lachman; William R Wilcox; Deborah Krakow; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2015-05-22       Impact factor: 2.802

Review 3.  A system-based approach to the genetic etiologies of non-immune hydrops fetalis.

Authors:  Anne H Mardy; Shilpa P Chetty; Mary E Norton; Teresa N Sparks
Journal:  Prenat Diagn       Date:  2019-06-26       Impact factor: 3.050

4.  Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.

Authors:  T Furuichi; H Kayserili; S Hiraoka; G Nishimura; H Ohashi; Y Alanay; J C Lerena; A D Aslanger; H Koseki; D H Cohn; A Superti-Furga; S Unger; S Ikegawa
Journal:  J Med Genet       Date:  2009-06-08       Impact factor: 6.318

5.  A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Authors:  Carsten Rautengarten; Oliver W Quarrell; Karen Stals; Richard C Caswell; Elisa De Franco; Emma Baple; Nadia Burgess; Roobin Jokhi; Joshua L Heazlewood; Amaka C Offiah; Berit Ebert; Sian Ellard
Journal:  Hum Mol Genet       Date:  2019-11-01       Impact factor: 6.150

  5 in total

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