## Abstract Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and
Prenatal diagnosis of asphyxiating thoracic dysplasia
β Scribed by Lipson, M. H. ;Waskey, J. ;Rice, J. ;Adomian, G. ;Lachman, R. ;Filly, R. ;Rimoin, D. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1984
- Tongue
- English
- Weight
- 386 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0148-7299
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We report on the prenatal ultrasound diagnosis of diastrophic dysplasia at 16 wk of gestation. The ultrasound examination showed abnormally short limbs and lateral projection on the thumbs. Radiological and histological studies confirmed the presence of diastrophic dysplasia in the aborted fetus.
## Abstract We describe a 5βyearβold Japanese boy who has some radiographic findings characteristic of asphyxiating thoracic dystrophy (ATD)βchondroectodermal dysplasia with a de novo chromosome abnormality. He also has mild mental retardation, short stature, hypoplastic hair and skin, oligodontia,