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  • Title: Prenatal diagnosis of asphyxiating thoracic dysplasia.
    Author: Lipson M, Waskey J, Rice J, Adomian G, Lachman R, Filly R, Rimoin D.
    Journal: Am J Med Genet; 1984 Jun; 18(2):273-7. PubMed ID: 6540520.
    Abstract:
    A fetus at risk for asphyxiating thoracic dysplasia was studied with ultrasound examination at 16, 18, and 23 weeks of pregnancy. Definite shortness of fetal femora was observed. Radiographic and histologic examinations after pregnancy termination confirmed the diagnosis. Asphyxiating thoracic dysplasia appears to be one of an increasing number of skeletal dysplasias that can be diagnosed prenatally with ultrasound.
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