Literature DB >> 10663502

Developmental coxa vara associated with spondylometaphyseal dysplasia (DCV/SMD): "SMD-corner fracture type" (DCV/SMD-CF) demonstrated in most reported cases.

G Currarino1, J G Birch, J A Herring.   

Abstract

BACKGROUND: This paper reports three children with short stature: developmental coxa vara unilateral in the first case and bilateral in the other two; somewhat squared and "ovoid" vertebral bodies in the first patient, and normal to slightly tall vertebral bodies in the third; metaphyseal changes in some long tubular bones including bone fragments similar to the corner fractures seen in child abuse in all three patients.
MATERIALS AND METHODS: The first and second patients were sisters; their mother, also quite short, had surgical procedures in early life for bilateral "coxa vara"; their brother, also of short stature, had bilateral coxa valga with otherwise normal femoral heads and necks, and mild metaphyseal changes associated with two minute "corner fractures" in the proximal metaphysis of the left tibia.
RESULTS: A review of reported cases of developmental coxa vara associated with spondylometaphyseal dysplasia revealed that simulated corner fractures were present in most instances.

Entities:  

Mesh:

Year:  2000        PMID: 10663502     DOI: 10.1007/s002470050005

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


  3 in total

1.  Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia.

Authors:  E B Cadoff; R Sheffer; S Wientroub; D Ovadia; V Meiner; J E Schwarzbauer
Journal:  Clin Genet       Date:  2018-09-03       Impact factor: 4.438

2.  Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type.

Authors:  Nikhil Nair; Amit Kumar Satapathy; Neerja Gupta; Madhulika Kabra; Arun Kumar Gupta; Manisha Jana
Journal:  Indian J Pediatr       Date:  2016-04-30       Impact factor: 1.967

3.  Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Authors:  Chae Syng Lee; He Fu; Nissan Baratang; Justine Rousseau; Heena Kumra; V Reid Sutton; Marcello Niceta; Andrea Ciolfi; Guilherme Yamamoto; Débora Bertola; Carlo L Marcelis; Dorien Lugtenberg; Andrea Bartuli; Choel Kim; Julie Hoover-Fong; Nara Sobreira; Richard Pauli; Carlos Bacino; Deborah Krakow; Jillian Parboosingh; Patrick Yap; Ariana Kariminejad; Marie T McDonald; Mariana I Aracena; Ekkehart Lausch; Sheila Unger; Andrea Superti-Furga; James T Lu; Dan H Cohn; Marco Tartaglia; Brendan H Lee; Dieter P Reinhardt; Philippe M Campeau
Journal:  Am J Hum Genet       Date:  2017-11-02       Impact factor: 11.025

  3 in total

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