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

doi:10.1097/00019605-199804000-00005

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Article

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

Clinical dysmorphology - 1 Apr 1998

Morton J E, Kilby M D, Rushton I

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 ch...

Topics

Bone and Bones
Cartilage
Consanguinity
Female
Genes, Lethal
Genes, Recessive
Humans
Male
Osteochondrodysplasias
Phenotype
Pregnancy
Syndrome
Ultrasonography, Prenatal

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