Growth and development in thanatophoric dysplasia – an update 25 years later
نویسندگان
چکیده
KEY CLINICAL MESSAGE Thanatophoric dysplasia is typically a neonatal lethal condition. However, for those rare individuals who do survive, there is the development of seizures, progression of craniocervical stenosis, ventilator dependence, and limitations in motor and cognitive abilities. Families must be made aware of these issues during the discussion of management plans.
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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Thanatophoricdysplasia (TD) isanosteochondrodysplasiaalwayslethalintheneonatalperiod. Thevastmajorityofcasesareduetodenovomutations. Itisdividedintotwotypes: ashortcurvedfemurcharacterizestype 1, whileastraighterfemurwithcloverleafskullcharacterizestype 2. Inthanatophoricdysplasiathelimbsareveryshort. Theribcageissmall. Thevertebralbodiesofthespinearegreatlyreducedinheightwithwidespacesbetwee...
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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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We report a male patient with type 1 thanatophoric dysplasia, now eight years old, having a mutation in the FGFR3 gene. Radiological examination at birth revealed that the ribs and the bones of the extremities were very short and vertebral bodies were greatly reduced in height with wide intervertebral spaces. The femurs were shaped like French telephone receivers. Because of respiratory insuffi...
متن کاملThe prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study
The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 year period. Multiple sources of ascertainment, including genetic notes, radiological reports and post mortem findings, were used. 39 cases were identified. Tha...
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عنوان ژورنال:
دوره 1 شماره
صفحات -
تاریخ انتشار 2013