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Article

Intrafamilial phenotypic variability in Engelmann disease (ED): are ED and Ribbing disease the same entity?

American journal of medical genetics - 13 Mar 2000

Makita Y, Nishimura G, Ikegawa S, Ishii T, Ito Y, Okuno A

Abstract excerpt

We report on clinical and radiologic manifestations in a 3-generation Japanese family with Engelmann disease (ED) or progressive diaphyseal dysplasia. A large variation of phenotype was remarkable among 12 affected family members. Of the 12 patients, 7 had full manifestations of ED, such as bilateral, symmetrical diaphyseal sclerosis of long bones with myopathy and limb pain, whereas the other 5 exhibited only...

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PMID: 10748417
DOI: 10.1002/(sici)1096-8628(20000313)91:2<153::aid-ajmg15>3.0.co;2-u

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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