Clinical and Radiological Evaluation of Cleidocranial Dysplasia in Two Trinidadian Siblings
نویسندگان
چکیده
منابع مشابه
Cleidocranial Dysplasia: Case Report of Three Siblings
BACKGROUND A family case report of cleidocranial dysplasia (CCD) with varied manifestations from father to three siblings is presented. CCD ( MIM # 119600) is a rare autosomal dominant skeletal dysplasia caused by CBAF1 gene ( OMIM 600211) with a wide range of variability. In all the cases generalized dysplasia in bone, prolonged retention of primary teeth and delayed eruption of permanent teet...
متن کاملCleidocranial dysplasia: clinico-radiological illustration of a rare case.
Cleidocranial dysplasia is an autosomal dominant condition caused by mutation of RUNX2, characterized by generalized dysplasia of the bones and teeth. Affected individuals have short stature, atypical facial features, and skeletal anomalies affecting mainly the skull and clavicle. The dental manifestations are mainly delayed exfoliation of the primary teeth and delayed eruption of the permanent...
متن کاملCleidocranial dysplasia: clinical and molecular genetics.
Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The disease gene has been mapped to chromosome 6p21 within a region containing CBFA1, a member of the runt family of transcription factors. Mutations in the CBFA1 g...
متن کاملGargolyism: clinical, radiological and haematological features in two siblings.
Gargoylism is a rare disease. The complete form of this condition is easily recognized, but incomplete cases occur, and some of these are confused with the Morquio-Brailsford type of chondro-osteo-dystrophy. Most of the recorded cases have been in infants and children, and the early manifestations of this disease are well described by Caffey (1952). Fairbank (1951) states that, as a rule, gradu...
متن کاملGargoylism: Clinical, Radiological and Haematological Features in Two Siblings
Gargoylism is a rare disease. The complete form of this condition is easily recognized, but incomplete cases occur, and some of these are confused with the Morquio-Brailsford type of chondro-osteo-dystrophy. Most of the recorded cases have been in infants and children, and the early manifestations of this disease are well described by Caffey (1952). Fairbank (1951) states that, as a rule, gradu...
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ژورنال
عنوان ژورنال: West Indian Medical Journal
سال: 2014
ISSN: 0043-3144
DOI: 10.7727/wimj.2012.160