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10.1007/BF01958429

http://scihub22266oqcxt.onion/10.1007/BF01958429
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1915501!ä!1915501

suck abstract from ncbi


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pmid1915501      Eur+J+Pediatr 1991 ; 150 (7): 486-8
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  • The cardio-facio-cutaneous syndrome: report of a patient and review of the literature #MMPMID1915501
  • Bottani A; Hammerer I; Schinzel A
  • Eur J Pediatr 1991[May]; 150 (7): 486-8 PMID1915501show ga
  • We report a 3-year-old girl with the cardio-facio-cutaneous (CFC) syndrome. She presented the typical combination of mild developmental delay, postnatal onset short stature with relative macrocephaly, a wide and prominent forehead with posteriorly rotated ears and down-slanting palpebral fissures, an atrial septal defect, and ectodermal abnormalities. All cases reported to date occurred sporadically. The aetiology remains unknown; de novo mutations of an autosomal dominant gene seem the most likely explanation.
  • |*Abnormalities, Multiple[MESH]
  • |*Heart Defects, Congenital[MESH]
  • |*Intellectual Disability[MESH]
  • |*Skin Abnormalities[MESH]
  • |Dermatitis, Atopic[MESH]
  • |Facial Bones/*abnormalities[MESH]
  • |Female[MESH]
  • |Heart Septal Defects, Atrial[MESH]
  • |Humans[MESH]
  • |Infant[MESH]
  • |Skull/*abnormalities[MESH]


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