New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies

Am J Med Genet A. 2010 Aug;152A(8):1915-8. doi: 10.1002/ajmg.a.33488.

Abstract

We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital heart defects, joint contractures, genital hypoplasia, and distinctive facial features. These sibs appear to have a previously undescribed skeletal dysplasia, which is most likely inherited in an autosomal recessive fashion.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Dandy-Walker Syndrome / genetics*
  • Dandy-Walker Syndrome / pathology
  • Face / abnormalities*
  • Fatal Outcome
  • Female
  • Genitalia / abnormalities*
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Musculoskeletal Abnormalities / genetics*
  • Thumb / abnormalities*