THANATOPHORIC DYSPLASIA: A CASE REPORT WITH PROBABLE RECURRENCE
نویسندگان
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 کاملDevelopmental Disturbance of Dentin with Probable Diagnosis of Dentin Dysplasia Type 1d: A rare case report
Background: Dentin dysplasia (DD) is a rare disturbance of dentin formation, characterized by normal enamel but atypical dentin formation with abnormal pulpal morphology. In DD type I, the teeth appear clinically normal in morphologic appearance and color. Radiographic analysis shows obliteration of all pulp chambers as well as short, blunted, and malformed or absent roots with multiple periapi...
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...
متن کاملThanatophoric dysplasia.
Two autopsy cases of thanatophoric dysplasia in male newborn infant are described. They have markedly short-limbs and narrow thoraxes. Histologically, generalized disruption of endochondral ossification with normal resting cartilage was seen at the epiphyseal region of femur. Differential diagnosis from other 3 types of lethal chondrodysplasia is described and the histogenesis of thanatophoric ...
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ژورنال
عنوان ژورنال: Indian Journal of Child Health
سال: 2017
ISSN: 2349-6118,2349-6126
DOI: 10.32677/ijch.2017.v04.i03.045