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

J Genet Hum. 1985 Jan;33(1):13-20.
[Article in French]

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Osteochondrodysplasias / genetics*
  • Pregnancy
  • X Chromosome