Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome)

Am J Med Genet. 1982 Dec;13(4):453-63. doi: 10.1002/ajmg.1320130416.

Abstract

Osteodysplasty (Melnick-Needles syndrome, MNS), a severe bone dysplasia with presumed autosomal dominant inheritance, has now been described in 24 individuals, with a predominance of females (21:3). We report an affected woman who gave birth to a male infant with omphalocele, hypoplastic kidneys, and the skeletal changes of this disorder; he died soon after birth. Histologic studies of the calvaria and long bones showed normal maturational sequences, but suggest that remodeling was not normal. This is the second known instance of a male infant with omphalocele and this skeletal dysplasia born to a woman with MNS. We suggest that the gene for the MNS may also cause a syndrome of multiple abnormalities that can be lethal and that this more severe phenotype in males may account for the altered sex ratio among reported cases. Both X-linked dominant and autosomal-dominant sex-limited inheritance are feasible interpretations of the existing information.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Bone and Bones / abnormalities*
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Hernia, Umbilical / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Mandibulofacial Dysostosis / genetics*
  • Sex Ratio
  • Syndrome
  • X Chromosome