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10.1002/ajmg.1320330411

http://scihub22266oqcxt.onion/10.1002/ajmg.1320330411
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2596506!ä!2596506

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suck abstract from ncbi

pmid2596506      Am+J+Med+Genet 1989 ; 33 (4): 474-5
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  • A case of cardio-facio-cutaneous syndrome #MMPMID2596506
  • Mucklow ES
  • Am J Med Genet 1989[Aug]; 33 (4): 474-5 PMID2596506show ga
  • A 6-yr-old girl is described who presented with failure to thrive at age 3 months and was found to have mental retardation, growth retardation, disproportionately large head, distinctive face, abnormal hair, eczema, heart defect, splenomegaly, and multiple hemangiomata. She is thought to have the cardio-facio-cutaneous syndrome and to be the first such case identified in Britain.
  • |*Facial Expression[MESH]
  • |Abnormalities, Multiple/*diagnosis[MESH]
  • |Child[MESH]
  • |Child, Preschool[MESH]
  • |Ectodermal Dysplasia/*diagnosis[MESH]
  • |Failure to Thrive/etiology[MESH]
  • |Female[MESH]
  • |Heart Defects, Congenital/*diagnosis[MESH]
  • |Hemangioma/diagnosis[MESH]
  • |Humans[MESH]
  • |Infant[MESH]
  • |Intellectual Disability/diagnosis[MESH]
  • |Motor Skills[MESH]
  • |Splenomegaly/diagnosis[MESH]


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