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  • Title: A new lethal chondrodysplasia with platyspondyly, long bone angulation and mixed bone density.
    Author: Seller MJ, Berry AC, Maxwell D, McLennan A, Hall CM.
    Journal: Clin Dysmorphol; 1996 Jul; 5(3):213-5. PubMed ID: 8818449.
    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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