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hypertelorism/arginina
L'enllaç es desa al porta-retalls
8 resultats
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
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A recurrent point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that converts proline 250 into arginine is commonly associated with coronal craniosynostosis and has allowed definition of a new syndrome on a molecular basis. Sixty-two patients with sporadic or familial forms of
Septo-optic dysplasia and median cleft face syndrome in a patient with isolated growth hormone deficiency and hyperprolactinemia.
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A pituitary evaluation was carried out in a 12-year-old girl who had early puberty, short stature, optic nerve hypoplasia, and agenesis of the corpus callosum. Her growth hormone (GH) response to insulin-induced hypoglycemia and arginine infusion was blunted. Basal and stimulated levels of prolactin
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis.
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BACKGROUND
Muenke syndrome is a fibroblast growth factor receptor 3 (FGFR-3)-associated coronal craniosynostosis syndrome, which was first described in 1997.
METHODS
We report an infant girl who was born to a 29-year-old primapara at 38 weeks' gestation. When evaluated at 3 days old, physical
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
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OBJECTIVE
A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. The goal of the present study was to examine the phenotype of patients in whom this
Triple x syndrome with short stature: case report and literature review.
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BACKGROUND
Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features
p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.
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OBJECTIVE
To define the mutation type in a clinically suspected Egyptian child with Freeman-Sheldon syndrome (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial
[A case of bilateral coronal craniosynostosis with the P250R mutation in FGFR3 gene].
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Recently, the substitution of proline 250 by arginine in the fibroblast growth factor receptor 3 (FGFR3) gene, has been identified in patients with craniosynostosis and defines a new syndrome on a molecular basis. We report a 1-year-1-month-old female with bilateral coronal craniosynostosis who had
Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha-2a therapy: Case report.
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We report the case of a 14-year-old girl that was referred to the maxillo facial surgery unit at age 11 years because she exhibited swelling in the right side of her maxilla and right mandible. After a conservative surgery, she started with interferon alpha-2a to avoid recurrence. She has remained
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