Literature DB >> 3981139

[Osteodysplasia or the Melnick-Needles syndrome; (apropos of a new case)].

B Deleporte, J P Buissart, P Vankemmel, J Rémy, P Maroteaux, F Galley, J Savary, J L Fournier, G Fontaine.   

Abstract

Osteodysplasty (Melnick and Needles syndrome) without facial dysmorphy in a 26 1/2 years old woman, mother of a normal 5 months female infant. First male newborn was stillborn at 37 weeks of amenorrhea with Potter syndrome and severe malformations (microcephaly, cleft lip and palate, posterior scalp lesions, bilateral palmar transverse crease) just like 13 trisomy. Spine and limb X-ray anomalies pointed out a week before foetus expulsion are not proved subsequently because examinations deficiency.

Entities:  

Mesh:

Year:  1985        PMID: 3981139

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  1 in total

1.  Yunis-Varon syndrome with severe osteodysplasty.

Authors:  C Garrett; A C Berry; R H Simpson; C M Hall
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.