Literature DB >> 24121766

Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign.

Catherine Garel, Amira Dhouib, Chiara Sileo, Valérie Cormier-Daire, Hubert Ducou le Pointe.   

Abstract

Metatropic dysplasia is a very rare form of osteochondrodysplasia with only one case of prenatal diagnosis described in the literature. It is characterized by marked shortening of the long bones with severe platyspondyly and dumbbell-shape metaphyses. We report a case of metatropic dysplasia that was diagnosed prenatally and describe the findings on US and CT. The pregnancy was terminated and the post-mortem radiographs are shown. The woman had been referred for short and bowed long bones. Severe metaphyseal enlargement was a misleading finding because it had been misinterpreted as limb bowing. Thus when abnormal curvature of the long bones is observed at prenatal US, attention should be drawn not only to the diaphyses but also to the metaphyses because severe metaphyseal enlargement might be responsible for pseudo-bowing.

Entities:  

Mesh:

Year:  2014        PMID: 24121766     DOI: 10.1007/s00247-013-2806-y

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


  8 in total

1.  Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia.

Authors:  M Shohat; R Lachman; D L Rimoin
Journal:  J Pediatr       Date:  1989-02       Impact factor: 4.406

2.  Morphologic observations in a case of lethal variant (type I) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia.

Authors:  M J O'Sullivan; W H McAllister; R H Ball; S L Teitelbaum; P E Swanson; L P Dehner
Journal:  Pediatr Dev Pathol       Date:  1998 Sep-Oct

3.  [Metatrophic dwarfism].

Authors:  P Maroteaux; J Spranger; H R Wiedemann
Journal:  Arch Kinderheilkd       Date:  1966-02

4.  Metatropic dwarfism.

Authors:  J H Larose; B B Gay
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1969-05

5.  A severe form of metatropic dwarfism.

Authors:  G Perri
Journal:  Pediatr Radiol       Date:  1978-09-26

6.  Prenatal diagnosis of metatropic dwarfism.

Authors:  S Manouvrier-Hanu; L Devisme; M C Zelasko; P Bourgeot; C Vincent-Delorme; A S Valat-Rigot; F Puech; J P Farriaux
Journal:  Prenat Diagn       Date:  1995-08       Impact factor: 3.050

Review 7.  Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature.

Authors:  D Geneviève; M Le Merrer; J Feingold; A Munnich; P Maroteaux; V Cormier-Daire
Journal:  Am J Med Genet A       Date:  2008-04-15       Impact factor: 2.802

8.  Metatropic dwarfism. Uncoupling of endochondral and perichondral growth.

Authors:  S D Boden; F S Kaplan; M D Fallon; R Ruddy; J Belik; E Anday; E Zackai; J Ellis
Journal:  J Bone Joint Surg Am       Date:  1987-02       Impact factor: 5.284

  8 in total
  1 in total

1.  Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report.

Authors:  Michele A Tchio Tchoumba; Yan Bai; Runming Jin; Xianying Yu; Musa Male
Journal:  Orthop Surg       Date:  2019-12-06       Impact factor: 2.071

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.