Spondyloenchondromatosis: syndromic identity and evolution of the phenotype.

doi:10.1002/ajmg.1320550417

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Article

Spondyloenchondromatosis: syndromic identity and evolution of the phenotype.

American journal of medical genetics - 13 Feb 1995

Zack P, Beighton P

Abstract excerpt

We present case details and depict the phenotypic manifestations of a dwarfing skeletal dysplasia in an adolescent boy who was first seen in early childhood. His initial clinical and radiological findings resembled those of pseudoachondroplasia but these subsequently metamorphosed to an appearanc...

Topics

Achondroplasia
Adolescent
Age Factors
Consanguinity
Enchondromatosis
Female
Genes, Recessive
Humans
Male
Phenotype
Radiography
Spinal Diseases
Syndrome

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