Case Report: Camptomelic Dysplasia in One of Twins
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: Nigerian Journal of Paediatrics
سال: 2002
ISSN: 0302-4660
DOI: 10.4314/njp.v29i4.12022