نتایج جستجو برای: cutis marmorata telangictatica congenital
تعداد نتایج: 122724 فیلتر نتایج به سال:
Aplasia Cutis Conginita (ACC) is a condition characterized by congenital absence of skin, usually on the scalp. ACC can occur as an isolated condition or in the presence of other congenital anomalies. Here we describe a case of a 16 days old baby girl with an isolated ACC of the scalp. Her elder two siblings have been diagnosed with ACC with concomitant cardiac or limb anomalies. The patient wa...
Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy. Parental consanguinity in both families and a more pronounced severity of the neurological disease in the male patient were present. Both patients were diagnosed in infancy as having De Barsy syndrome, but clinical follow...
Cutis laxa is a rare inherited or acquired disorder of elastic tissue characterized by inelastic and loose skin. Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. The authors present the case of a female patient with clinical manifestations suggestive of the hereditary form of the disease, with consanguineous parents (second-degree cousins) and a ...
Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G pr...
A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, lipodystrophy, pulmonary hypertension, cutis marmorata, feeding disorder and failure to thrive was investigated by whole-genome sequencing. This revealed a de novo, heterozygous, frame-shift mutation in the Caveolin1 gene (CAV1) (p.Phe160X). Mutations in CAV1, encoding the main component of the c...
Skin manifestation associated with pancreatitis can have various presentations. Skin manifestations such as Grey Turner sign or Cullen's sign are known and well documented findings of pancreatitis and carry significant prognostic value. However, livedo reticularis is a rare phenomenon in setting of pancreatitis. Here we report a case of 40 year old female who experiences recurrent episodes of l...
In order to elaborate a planorbid chart of the State of Rio de Janeiro a survey of freshwater gastropods in the Metropolitan Mesoregion of this State was performed and revealed the occurrence of 20 species: Antillorbis nordestensis (Lucena, 1954); Biomphalaria glabrata (Say, 1818); Biomphalaria schrammi (Crosse, 1864); Biomphalaria straminea (Dunker, 1848); Biomphalaria tenagophila (Orbigny, 18...
Monoclonal antibodies (mAbs) raised against adult leech nervous systems were screened on embryos of the leech Haemopis marmorata in order to determine when in development specific antigens are first expressed and the order in which they are expressed by different cells or tissues. Three of the mAbs produced by Zipser and McKay (Zipser, B., and R. McKay (1981) Nature 289: 549-554) were screened:...
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