Thanatophoric dysplasia- a rare cause of stillbirth and perinatal mortality: a case report
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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...
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 کاملThanatophoric dysplasia: a rare entity.
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually mad...
متن کاملPlacental Mesenchymal Dysplasia With Normal Fetus: A Rare Case Report
Placental mesenchymal dysplasia (PMD) is a rare benign placental abnormality. It is characterized by hydropic degeneration of stem villi, placentomegaly, and increased maternal serum alpha-fetoprotein(AFP). It can be associated with different congenital abnormalities, karyotype abnormalities, and feto-maternal morbidities. It is difficult to differentiate PMDfrom partial mole, complete mole wit...
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 ...
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ژورنال
عنوان ژورنال: International Journal of Reproduction, Contraception, Obstetrics and Gynecology
سال: 2021
ISSN: 2320-1789,2320-1770
DOI: 10.18203/2320-1770.ijrcog20210772