Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation
نویسندگان
چکیده
منابع مشابه
Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I.
Thanatophoric dysplasia type I (TDI) is a neonatal lethal skeletal dysplasia caused by several mutations in the extracellular domain of fibroblast growth factor receptor 3. These mutations occur either in the Ig2-Ig3 linker domain or in the extracellular juxtamembrane domain, and all involve mutation of the wild-type residue to Cys. In all cases, the presence of the mutant Cys residue allows th...
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crouzon syndrome is a rare autosomal dominant premature cranyosynostosis, caused by fibroblast growth factor receptor 2 gene mutation on chromosome 10. the predominant skull and facial malformations with potential compromise airway make the crouzon syndrome a demanding issue for anesthesiologists and surgeons, required dynamic team work. in this report we describe a child, a known case of crouz...
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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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Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various cranio...
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Craniosynostoses are caused by premature fusion of one or more sutures of the infant’s skull with an incidence between 1:1000 and 1:10 000. Isolated and syndromic forms can be differentiated and are involved in over 150 genetic disorders. Syndromic forms tend to be inherited and include variable other malformations of the extremities, the backbone, and the face. Isolated forms of craniosynostos...
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ژورنال
عنوان ژورنال: Experimental and Molecular Pathology
سال: 2017
ISSN: 0014-4800
DOI: 10.1016/j.yexmp.2017.02.019