Cardio‐facio‐cutaneous (CFC) syndrome: Report of an adult without mental retardation
Identifieur interne : 00C121 ( Main/Exploration ); précédent : 00C120; suivant : 00C122Cardio‐facio‐cutaneous (CFC) syndrome: Report of an adult without mental retardation
Auteurs : Siranoush Manoukian [Italie] ; Faustina Lalatta [Italie] ; Angelo Selicorni [Italie] ; Gianluca Tadini [Italie] ; Riccardo Cavalli [Italie] ; Giovanni Neri [Italie]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1996-05-17.
Abstract
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. © 1996 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19960517)63:2<382::AID-AJMG11>3.0.CO;2-G
Affiliations:
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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. © 1996 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li></region><settlement><li>Rome</li></settlement></list><tree><country name="Italie"><noRegion><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name></noRegion><name sortKey="Cavalli, Riccardo" sort="Cavalli, Riccardo" uniqKey="Cavalli R" first="Riccardo" last="Cavalli">Riccardo Cavalli</name><name sortKey="Lalatta, Faustina" sort="Lalatta, Faustina" uniqKey="Lalatta F" first="Faustina" last="Lalatta">Faustina Lalatta</name><name sortKey="Lalatta, Faustina" sort="Lalatta, Faustina" uniqKey="Lalatta F" first="Faustina" last="Lalatta">Faustina Lalatta</name><name sortKey="Neri, Giovanni" sort="Neri, Giovanni" uniqKey="Neri G" first="Giovanni" last="Neri">Giovanni Neri</name><name sortKey="Selicorni, Angelo" sort="Selicorni, Angelo" uniqKey="Selicorni A" first="Angelo" last="Selicorni">Angelo Selicorni</name><name sortKey="Tadini, Gianluca" sort="Tadini, Gianluca" uniqKey="Tadini G" first="Gianluca" last="Tadini">Gianluca Tadini</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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