A new lethal autosomal recessive skeletal dysplasia with associated dysmorphic features.

Abstract excerpt

We report a fetus noted on routine ultrasonography at 21 weeks gestation to have a skeletal dysplasia with reduced ossification of shortened long bones and normal sized ribs. The consanguineous parents elected to continue the pregnancy and spontaneous labour occurred at 33 weeks gestation. The child died in the neonatal period. At necropsy, the main skeletal features were abnormal vertebrae with variation in...

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