A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density
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Updated: Nov 4, 2026

Culturing and Measuring Fetal and Newborn Murine Long Bones
Published on: April 26, 2019
M J Seller1, A C Berry, D Maxwell
1South East Thames Regional Genetics Centre, Guy's Hospital, London, UK.
Abstract:
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.
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