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Autosomal dominant craniometaphyseal dysphasia. Clinical variability
Author(s) -
Carnevale Alessandra,
Grether Patricia,
Castillo Victoria del,
Takenaga Raul,
Orzechowski Aurora
Publication year - 1983
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.1399-0004.1983.tb00431.x
Subject(s) - proband , medicine , dysplasia , anatomy , pediatrics , pathology , genetics , biology , mutation , gene
The autonomic dominant form of craniometaphyseal dysplasia was ascertained in three members of a Mexican family. The clinical and radiological features of the affected members are described and the variability of the condition is emphasized. The proband has striking cranial changes, but moderate long bone abnormalities; the father and the sister, who had mild cranial changes, showed the characteristic metaphyseal widening.