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Autosomal dominant endosteal hyperostosis
Author(s) -
PerezVicente J. A.,
Castro E. Rodríguez De,
Lafuente J.,
Mateo M. MARTÍN D.,
GiménezRoldán S.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb02789.x
Subject(s) - hyperostosis , foramen magnum , medicine , anatomy , occipital bone , osteochondrodysplasia , skull , pathology
The first reported Spanish family with autosomal dominant endosteal hyperostosis is presented and two members in two different generations studied. Neurological involvement with sensorineural hearing loss, chronic intracranial hypertension, and mild corticospinal tract abnormalities were found in one case with radiological evidence of progressive bone disease at follow‐up. In addition to mild hydrocephalus, CT‐scan of the head documented a reduction in size of the posterior fossa and encroachment of the foramen magnum. A pattern of selective increase in the bone fraction of serum alkaline phosphatase was also recorded. This family supports the view that severe forms of endosteal hyperostosis are not confined to the autosomal recessive variant, as individuals with the autosomal dominant form may also show relentless progression to neurological involvement during adulthood.