Bowdler spur also found in camptomelic dysplasia
نویسندگان
چکیده
منابع مشابه
[Prenatal diagnosis of camptomelic dysplasia: a case report].
Camptomelic dysplasia belongs to a heterogeneous and rare group of lethal skeletal dysplasias, characterized by abnormal development of bones and cartilages. It is caused by a mutation in gene Sox9 (SRY-like HMG [high-mobility group] BOX 9) of chromosome 17 and it is transmitted as an autosomal dominant trait. Its main characteristics are the shortening and bowing of the long bones, principally...
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camptomelic dysplasia (cmd) is a rare autosomal dominant congenital dwarfism characterized by shortness and bowing of long bones (camptomelia) and other severe skeletal and extra skeletal malformations. cmd is generally considered to be lethal and the majority of cases die in the neonatal period due to respiratory insufficiency. we hereunder report a term male neonate with characteristic clinic...
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ژورنال
عنوان ژورنال: Pediatric Radiology
سال: 2015
ISSN: 0301-0449,1432-1998
DOI: 10.1007/s00247-015-3471-0