Camptomelic dysplasia: A case report
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...
متن کاملa case report of camptomelic dysplasia
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...
متن کاملDentin Dysplasia: ARare Case Report
Introduction: Dentin Dysplasia is one of the rare hereditary diseases that the enamel is normal, but it also affects the dentin and the shape of the tooth pulp. Due to the low prevalence of this disease, a case of dentin dysplasia with the classical and atypical dentin dysplasia type 1 is presented. Case presentation:A 11-year-old girl with the mobility of lower central teeth that has severe ...
متن کاملFamilial 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...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Dr. Behcet Uz Children's Hospital
سال: 2013
ISSN: 2146-2372,1309-9566
DOI: 10.5222/buchd.2012.040