Literature DB >> 3793511

Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity.

A M Dereymaeker, J Christens, R Eeckels, G Heremans, J P Fryns.   

Abstract

In this report three female patients with Melnick-Needles syndrome are described. This skeletal dysplasia is characterized by a peculiar craniofacial dysmorphism and hoarseness of the voice, which allow early clinical suspicion. The variability in clinical and radiological findings and the differences in prognosis indicate that this syndrome probably covers at the present time a heterogeneous group of different conditions.

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Year:  1986        PMID: 3793511

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN: 0018-022X


  6 in total

1.  Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome.

Authors:  C Foley; K Roberts; N Tchrakian; T Morgan; A Fryer; S P Robertson; N Tubridy
Journal:  Mol Syndromol       Date:  2010-09-14

2.  Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Authors:  Mary J Gray; Chong Ae Kim; Debora Romeo Bertola; Paula Ricci Arantes; Helen Stewart; Michael A Simpson; Melita D Irving; Stephen P Robertson
Journal:  Eur J Hum Genet       Date:  2011-06-29       Impact factor: 4.246

Review 3.  Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.

Authors:  Guido Currarino
Journal:  Pediatr Radiol       Date:  2008-09-25

Review 4.  Melnick-Needles syndrome. Four new cases.

Authors:  K Eggli; M Giudici; J Ramer; J Easterbrook; J Madewell
Journal:  Pediatr Radiol       Date:  1992

5.  Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.

Authors:  F Majewski; H Enders; M B Ranke; T Voit
Journal:  Eur J Pediatr       Date:  1993-11       Impact factor: 3.183

6.  Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?

Authors:  G U Exner
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

  6 in total

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