Craniomicromelic syndrome: first report in a male

Am J Med Genet A. 2011 Mar;155A(3):586-8. doi: 10.1002/ajmg.a.33451. Epub 2011 Feb 18.

Abstract

We report on craniomicromelic syndrome in a male fetus. This case had the previously reported features of prenatal onset growth retardation, underossified cranial bones, wide sutures and fontanels, small face as compared to head, small palpebral fissures, pinched nose, microstomia, micrognathia, and narrow thorax. The consistent combination of these features with short appearing limbs as observed in this case establishes this syndrome as a distinct entity.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / pathology*
  • Fetus / abnormalities
  • Fetus / diagnostic imaging
  • Humans
  • Male
  • Radiography
  • Skull / abnormalities*
  • Skull / diagnostic imaging
  • Syndrome