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10.1111/j.1468-3083.2004.00365.x

http://scihub22266oqcxt.onion/10.1111/j.1468-3083.2004.00365.x
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15096145!ä!15096145

suck abstract from ncbi


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pmid15096145      J+Eur+Acad+Dermatol+Venereol 2004 ; 18 (3): 324-7
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  • Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome Report of a case and review of the literature #MMPMID15096145
  • Weiss G; Confino Y; Shemer A; Trau H
  • J Eur Acad Dermatol Venereol 2004[May]; 18 (3): 324-7 PMID15096145show ga
  • We report one patient with cardiofaciocutaneous (CFC) syndrome. He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread keratosis pilaris, a peculiar craniofacial appearance with sparse, curly hair and low-set posteriorly rotated ears; congenital heart defects; and mild mental and motor retardation. We submit a comprehensive review of previously published articles regarding the dermatological findings in CFC syndrome (recently shown to be a variant of Noonan syndrome) emphasizing diagnostic criteria and its differentiation from the Costello syndrome.
  • |Abnormalities, Multiple/diagnosis[MESH]
  • |Child[MESH]
  • |Craniofacial Abnormalities/complications/*diagnosis[MESH]
  • |Diagnosis, Differential[MESH]
  • |Heart Defects, Congenital/complications/*diagnosis[MESH]
  • |Humans[MESH]
  • |Intellectual Disability/complications/*diagnosis[MESH]
  • |Male[MESH]
  • |Noonan Syndrome/*diagnosis[MESH]
  • |Prognosis[MESH]
  • |Risk Assessment[MESH]
  • |Severity of Illness Index[MESH]
  • |Skin Abnormalities/complications/*diagnosis[MESH]


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