Cleidocranial dysplasia in a sister and brother
نویسندگان
چکیده
منابع مشابه
Familial Cleidocranial Dysplasia in a Neonate: A Case Report
Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...
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Gargoylism has been the subject of several comprehensive reviews within recent years. The liability of siblings to be affected is established. There are a number of recorded instances of gargoylism affecting one of twins but involvement of both children of a twin delivery is rare. Nonne (1925) described twin sisters both of whom were affected. His publication contains no reference to the appear...
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We describe a brother and sister with microcephaly and mental retardation who were shown by cranial CT scan to have almost identical unilateral arachnoid cysts. The occurrence in sibs suggests the possibility of a genetic basis for at least some cases of arachnoid cysts.
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متن کاملCleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder resulting in the skeletal and dental abnormalities due to the disturbance in ossification of the bones. Clavicle is the most commonly affected bone. The prevalence of CCD is one in millions of live births. In this report, we present a case of 10-years-old boy showing features of this condition.
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ژورنال
عنوان ژورنال: Japanese Journal of Oral & Maxillofacial Surgery
سال: 1989
ISSN: 2186-1579,0021-5163
DOI: 10.5794/jjoms.35.2520