Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short-limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the diagnos
Diastrophic dysplasia: A case report
β Scribed by L. Mehta; I. C. Verma; J. P. Soni; R. U. Singhania
- Book ID
- 112915928
- Publisher
- Springer-Verlag
- Year
- 1992
- Tongue
- English
- Weight
- 533 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0019-5456
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Diastrophic dysplasia (DTD) is an autosomal recessive skeletal disorder characterized by disproportionate short stature, talipes equinovarus, flexion contracture of the knees, ''hitchhiker thumbs,'' increased incidence of dislocation at major joints, ear abnormalities, cleft palate, and progressive
Three sibs were eventually diagnosed as having diastrophic dysplasia. The firstborn, a male, lacked many of the clinical manifestations and radiological abnormalities of the hands, such that the diagnosis of diastrophic dysplasia could not be made. Subsequently, his twin sisters were born with more
Diastrophic dysplasia (DTD) is a well characterized, recessively inherited osteochondrodysplasia. Forty-eight patients with DTD were studied for craniofacial characteristics. Of these patients, 58% had cleft palate. A cephalometric analysis based on lateral cephalograms was performed. We observed a