Congenital skeletal dysplasia
نویسندگان
چکیده
منابع مشابه
Congenital Ectodermal Dysplasia
Two cases of phenotypically similar ectodermal dysplasia characterised by reduction of hair, diminished sweat pores, missing teeth and somewhat cracked and abnormal skin were studied to understand the genetic basis of this disorder with the help of pedigrees. The mode of inheritance in one case was suggested to be x-linked where as in the other case it was autosomal recessive. (JPMA 35 225, 1985).
متن کاملThanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly
The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowle...
متن کاملThe management of skeletal dysplasia
Skeletal dysplasia (SD) is disorders of bone and cartilage development caused by genetic defects. It comprises more than 300 specific disorders[1]. Causative genes responsible for SD include those encoding the bone and cartilage matrix proteins, receptors and intracellular molecules involved in signal pathway of chondrocyte and osteoblast, specific transcription factors, enzymes involved in bon...
متن کاملAsymptomatic congenital heart disease in children with skeletal chest deformity
Introduction: With respect to high association of skeletal chest deformity with cardiac abnormalities, these patients should be evaluated for evidence of cardiac involvement. So, we used echocardiography to investigate this association. Methods: This case-control study was done on 144 patients with skeletal chest deformity referred to OPD clinic. 240 persons were selected as control group, with...
متن کاملDiagnostic Use of Skeletal Survey in Suspected Skeletal Dysplasia
OBJECTIVE To review the practice of skeletal surveys in cases of suspected skeletal dysplasia. METHODS Retrospective review of records of patients with suspected skeletal dysplasia between December 1997 and December 2005. RESULTS A diagnosis of a specific skeletal dysplasia was reached in 155 out of a total of 285 suspected cases (54%). In 260 (91%), a record of radiological examination was...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2009
ISSN: 1757-790X
DOI: 10.1136/bcr.01.2009.1456