Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta

Jack Goldblatt,Paul Carman,P. Sprague

Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta

1991

Jack Goldblatt
Paul Carman
P. Sprague

We report a 3½-year-old boy with a unique spondylometaphyseal dysplasia with predominantly mesomelic involvement. In addition, he had gross generalised joint laxity and dentinogenesis imperfecta.

Keywords:

Spondylometaphyseal dysplasia
X-linked recessive inheritance
Genetics
Joint laxity
Dentinogenesis imperfecta
X chromosome
Dysplasia
Dwarfing
Endocrinology
Autosomal recessive inheritance
Internal medicine
Biology

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