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Prenatal diagnosis of dyssegmental dwarfism |
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| Authors: | Dr. Hyon Ju Kim Fernando Costales Maria Bouzoukl Robert C. Wallach |
| Affiliation: | 1. Department of Pediatrics Department of Radiology, and Department of Obstetrics and Gynecology, Beth Israel Medical Center, New York, N. Y.;2. Department of Pathology Department of Radiology, and Department of Obstetrics and Gynecology, Beth Israel Medical Center, New York, N. Y.;3. Department of Radiology, Mount Sinai School of Medicine, New York, N. Y., U.S.A. |
| Abstract: | Fetal ultrasound evaluations at 18 weeks gestation on two consecutive pregnancies of a woman who previously gave birth to a stillborn female affected with dyssegmental dwarfism, resulted in accurate diagnoses of unaffected and affected fetuses. Marked disorganization of vertebral bodies and associated encephalocele found in two affected cases in this family are consistent with the original observation of this new syndrome as two major aspects which differentiate it from other forms of lethal dwarfism. |
| Keywords: | Prenatal diagnosis Ultrasonography Dyssegmental dwarfism |