X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

Am J Med Genet A. 2005 Aug 1;136A(4):307-12. doi: 10.1002/ajmg.a.30570.


We describe a family with an X-linked dominant chondrodysplasia. Four males and six females were affected through four generations. Identification of skeletal abnormalities and hydrocephaly during the pregnancy of three male fetuses led to termination of the pregnancies. A fourth affected male died at 6 days of life. The four patients had chondrodysplasia, hydrocephaly, and facial features with microphthalmia. Radiographs showed severe platyspondyly and various bone abnormalities including a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. The affected females were less affected and showed small stature, sometimes associated with body asymmetry and mild mental retardation. This condition appears to be a previously unrecognized X-linked dominant chondrodysplasia.

MeSH terms

  • Abortion, Eugenic
  • Chromosomes, Human, X / genetics
  • Family Health
  • Female
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Genes, Dominant*
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / pathology
  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Hydrocephalus / pathology*
  • Limb Deformities, Congenital / pathology*
  • Male
  • Microphthalmos / pathology
  • Microsatellite Repeats
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis