Prenatal diagnosis ultrasonographic thanatophoric dysplasia: report of a case
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چکیده
منابع مشابه
Thanatophoric 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...
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Congenital cataracts are lens opacities that cause visual impairment in children. Early diagnosis of congenital cataracts is necessary because it facilitates appropriate intervention that can result in good visual function. Moreover, prenatal diagnosis, in particular, aids in the development of a therapeutic plan for the neonate. Ocular anomalies can be diagnosed prenatally because of the recen...
متن کامل[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 کاملThanatophoric dysplasia. A report of three cases.
Thanatophoric dysplasia is an osteochondrodysplasia always lethal already in the neonatal period. Three cases, showing the characteristic X-ray picture of the disease, are described. Histopathologically, an abnormality in the endochondral ossification process was observed. In sections from tubular bones the growth zone was found to be irregular with deficient chondrocyte maturation, absence of ...
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...
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ژورنال
عنوان ژورنال: DEL NACIONAL
سال: 2016
ISSN: 2072-8174
DOI: 10.18004/rdn2016.0008.01.062-069