A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density

Clin Dysmorphol. 1996 Jul;5(3):213-5.


A fetus diagnosed by sonography at 20 weeks' gestation had multiple skeletal abnormalities. The main features were absent ossification of the skull and cervical and upper thoracic vertebral bodies; short, angulated femora, tibiae, radii and ulnae but normal humeri; platyspondyly; trident-shaped acetabular roofs; sclerotic bands on the iliac wings and scapulae; clavicular hooks; and overall, mixed bone density. We suggest that this is a new chondrodysplasia which, since the parents are first cousins, could follow autosomal recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / pathology*
  • Abortion, Induced
  • Adult
  • Bone Density
  • Consanguinity
  • Diabetes Mellitus, Type 1
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / embryology
  • Osteochondrodysplasias / pathology*
  • Pregnancy
  • Pregnancy in Diabetics
  • Radiography