Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
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چکیده
منابع مشابه
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
Thanatophoric dwarfism (TD) is a sporadic lethal skeletal dysplasia with micromelic shortening of the limbs, macrocephaly, platyspondyly and reduced thoracic cavity. In the most common subtype (TD1), femurs are curved, while in TD2, straight femurs are associated with cloverleaf skull. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene were identified in both subtypes. While TD2 ...
متن کاملThanatophoric dwarfism.
A review of the radiographs of children previously classified as achondroplasiacs revealed six thanatophoric dwarfs. The main radiological differentiating features were the greater degree of shortening of the long bones, including the fibula, the curvature of the femora, the very small size of the thorax and, particularly, the very narrow ossified elements of the vertebral bodies. Perhaps the m...
متن کاملCloverleaf Skull and Thanatophoric Dwarfism
Partington, M. W., Gonzales-Crussi, F., Khakee, S. G., and Wollin, D. G. (1971). Archives of Disease in Childhood, 46, 656. Cloverleaf skull and thanatophoric dwarfism: report of four cases, two in the same sibship. Four cases of the cloverleaf skull syndrome are reported, 3 from Britain and 1 from Canada in a family of German/Irish descent. All cases had generalized chondrodysplastic changes a...
متن کاملDiagnosis of thanatophoric dwarfism in utero.
A 29-year-old multipara presented at the University Hospital, Kuala Lumpur at 26 weeks gestation. She has had two normal deliveries at this hospital, a girl in 1977 and a boy in 1978. Both children are normal and healthy. In this third pregnancy uterine size was larger than dates and hydramnios was suspected. Sonography confirmed the hydramnios and showed a single foetus with hydrocephalus and ...
متن کاملA case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved femur, and flattened vertebral bodies. These malformations result from the mutation in fibroblast growth factor receptor 3 (FGFR-3) gene which is l...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 1996
ISSN: 1460-2083
DOI: 10.1093/hmg/5.4.509