نتایج جستجو برای: cutis verticis gyrata
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Le cutis verticis gyrata (CVG), du cuir chevelu, est une maladie rare et évolutive de la peau du scalp. Elle est caractérisée par une hypertrophie et une hyperlaxité cutanée formant des plis semblables aux gyri du cortex cérébral. Nous présentons le cas d'une patiente de 21 ans atteinte de CVG primitif essentiel, ayant débuté à l'âge de 8 ans, au niveau du scalp et était d'aggravation progressi...
Pachydermoperiostosis is a rare hereditary disease, which presents with the cutaneous manifestations of pachydermia and cutis verticis gyrata. Histological findings in pachydermia frequently include dermal edema, mucin deposition, elastic fiber degeneration, dermal fibrosis and adnexal hyperplasia. However, the severity of these findings varies between clinical reports, and a systematic multipl...
Beare-Stevenson cutis gyrata syndrome: A new case of a c.1124C↷G (Y375C) mutation in the FGFR2 gene.
Beare-Stevenson syndrome (BSS) (MIM#123790) is a rare disorder characterized by craniofacial anomalies and cutis gyrata associated with anogenital anomalies and prominent umbilical stump. There are few reports on the syndrome, and molecular analysis has revealed the involvement of two closely spaced mutations within the FGFR2 gene: c.1115C↷G (p.S372C) and c.1124C↷G (p.Y375C). We herein describe...
Primary hypertrophic osteoarthropathy (PHO) is a rare disease inherited as recessive or irregular dominant trait and characterized by digital clubbing, pachydermia, periostosis. Biallelic mutations in HPGD SLCO2A1, disturbing prostaglandin E2 (PGE2 ) catabolism leading to increased circulating PGE2 level, cause PHO autosomal 1 (PHOAR1) 2 (PHOAR2), respectively. However, no causative genes have ...
Beare-Stevenson cutis gyrata syndrome (BSS) is a human genetic disorder characterized by skin and skull abnormalities. BSS is caused by mutations in the FGF receptor 2 (FGFR2), but the molecular mechanisms that induce skin and skull abnormalities are unclear. We developed a mouse model of BSS harboring a FGFR2 Y394C mutation and identified p38 MAPK as an important signaling pathway mediating th...
I discuss three problems related to the geometric regular realization of groups as Galois groups The rst two are over Q the last is over C Let k be the algebraic closure of a nite eld I decided against adding a fourth progress on describing fundamental groups of projective curves over k We expect these groups will be di erent for each conjugacy class of curves Still combining work of Fried Stev...
INTRODUCTION Although uncommon, fractures of the os odontoideum are known to occur in children under 7 years old, following acute trauma. CLINICAL PICTURE We report a case of chronic subluxation of the os odontoideum resulting in cervical myelopathy in a child with Beare-Stevenson cutis gyrata syndrome after surgery to the head and neck. TREATMENT AND OUTCOME The patient was initially put i...
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