TY - JOUR
T1 - Cardio-facio-cutaneous (CFC) syndrome
T2 - Report of an adult without mental retardation
AU - Manoukian, Siranoush
AU - Lalatta, Faustina
AU - Selicorni, Angelo
AU - Tadini, Gianluca
AU - Cavalli, Riccardo
AU - Neri, Giovanni
PY - 1996/5/17
Y1 - 1996/5/17
N2 - We report on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (CFC) syndrome, but without mental retardation. She had valvular and infundibular pulmonic stenosis, brittle and woolly hair with patchy alopecia, scant body hair, dry and hypohydrotic skin, and characteristic facial traits. To our knowledge, this is the first case of CFC syndrome without mental retardation but typical cutaneous findings.
AB - We report on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (CFC) syndrome, but without mental retardation. She had valvular and infundibular pulmonic stenosis, brittle and woolly hair with patchy alopecia, scant body hair, dry and hypohydrotic skin, and characteristic facial traits. To our knowledge, this is the first case of CFC syndrome without mental retardation but typical cutaneous findings.
KW - cardio-facio-cutaneous syndrome
KW - mental retardation
UR - http://www.scopus.com/inward/record.url?scp=0029981057&partnerID=8YFLogxK
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U2 - 10.1002/(SICI)1096-8628(19960517)63:2<382::AID-AJMG11>3.0.CO;2-G
DO - 10.1002/(SICI)1096-8628(19960517)63:2<382::AID-AJMG11>3.0.CO;2-G
M3 - Article
C2 - 8725790
AN - SCOPUS:0029981057
VL - 63
SP - 382
EP - 385
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -