[Familial craniometaphyseal dysplasia associated with mental retardation].

Abstract

The authors describe two sisters with the typical characteristics of cranio-metaphyseal dysplasia and mental retardation. They also discuss a cause-and-effect nature of the pathogenetic relationship of the intellectual deficiency and the systemic bone hereditary damage as well as the difficulty of assessing the type of heredity in the given family.

• Authors: V A Portnov, G S Marincheva, N L Gorbachevskaia
• Journal: Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952) (Zh Nevropatol Psikhiatr Im S S Korsakova) Vol. 85 Issue 3 Pg. 404-9 ( 1985) ISSN: 0044-4588 [Print] Russia (Federation)
• Vernacular Title: Semeĭnaia kraniometafizarnaia displaziia v sochetanii s umstvennoĭ otstalost'iu.
• PMID: 3993302 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Adolescent
• Bone Diseases, Developmental (complications, diagnosis, genetics)
• Female
• Humans
• Intellectual Disability (complications, genetics)