CARDIO-FACIO-CUTANEOUS SYNDROME (CFC) - NEW ITALIAN CASE

被引：0
|
作者：
DELLAMONICA, M [1 ]
DAVANZO, MG [1 ]
ROMANO, F [1 ]
DELLABRUNA, M [1 ]
SCARANO, G [1 ]
机构：
[1] OSPED G MOSCATI,CTR GENET MED,USL 4,VIA CIRCUMVALLAZIONE 87F,I-83100 AVELLINO,ITALY
来源：
RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS | 1991年 / 17卷 / 02期
关键词：
CARDIO-FACIO-CUTANEOUS SYNDROME (CFC); MULTIPLE CONGENITAL ANOMALIES; MENTAL RETARDATION; ECTODERMAL ABNORMALITIES;
D O I：
暂无
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
We describe a new italian case of the syndrome cardio-faciocutaneous, very recently recognized. The tipical aspects were dysmorphic facies, congenital heart defects and ectodermal anomalies. It is peculiar of the case reported the lack of heart defect. The Authors review the literature.
引用
收藏
页码：220 / 222
页数：3
相关论文
共 50 条
  • [21] A CARDIO-FACIO-CUTANEOUS SYNDROME CASE WITH TIGHT ACHILLES TENDONS
    Hazan, F.
    Aykut, A.
    Hizarcioglu, M.
    Tavli, V.
    Onay, H.
    Ozkinay, F.
    GENETIC COUNSELING, 2012, 23 (02): : 305 - 311
  • [22] Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome
    Ciacchini, B.
    Di Nardo, G.
    Marin, M.
    Borali, E.
    Caraccia, M.
    Mogni, R.
    Cairello, F.
    Rabbone, I.
    Ferrero, G. B.
    Pini Prato, A.
    Felici, E.
    FRONTIERS IN PEDIATRICS, 2023, 11
  • [23] Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome
    Bisogno, G
    Murgia, A
    Mammi, I
    Strafella, MS
    Carli, M
    JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 1999, 21 (05) : 424 - 427
  • [24] Neurological complications of cardio-facio-cutaneous syndrome
    Yoon, Grace
    Rosenberg, Jodine
    Blaser, Susan
    Rauen, Katherine A.
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2007, 49 (12): : 894 - 899
  • [25] Candidate region for cardio-facio-cutaneous syndrome
    Rauen, KA
    Cotter, PD
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 101 (02): : 173 - 173
  • [26] Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome
    Innes, AM
    Chudley, AE
    JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2000, 22 (06) : 546 - 546
  • [27] THE OPHTHALMOLOGIC MANIFESTATIONS OF THE CARDIO-FACIO-CUTANEOUS SYNDROME
    YOUNG, TL
    ZIYLAN, S
    SCHAFFER, DB
    JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 1993, 30 (01) : 48 - 52
  • [28] THE CARDIO-FACIO-CUTANEOUS SYNDROME - A MANIFESTATION OF THE NOONAN SYNDROME
    WARD, KA
    MOSS, C
    MCKEOWN, C
    BRITISH JOURNAL OF DERMATOLOGY, 1994, 131 (02) : 270 - 274
  • [29] CARDIO-FACIO CUTANEOUS SYNDROME (CFC SYNDROME)
    RABINOWITZ, L
    HONIG, P
    KOBLENZER, PC
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 1988, 27 (03) : 205 - 206
  • [30] Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome:: Overlapping clinical manifestations with Costello syndrome
    Narumi, Yoko
    Aoki, Yoko
    Niihori, Tetsuya
    Neri, Giovanni
    Cave, Helene
    Verloes, Alain
    Nava, Caroline
    Kavamura, Maria Ines
    Okamoto, Nobuhiko
    Kurosawa, Kenji
    Hennekam, Raoul C. M.
    Wilson, Louise C.
    Gillessen-Kaesbach, Gabriele
    Wieczorek, Dagmar
    Lapunzina, Pablo
    Ohashi, Hirofumi
    Makita, Yoshio
    Kondo, Ikuko
    Tsuchiya, Shigeru
    Ito, Etsuro
    Sameshima, Kiyoko
    Kato, Kumi
    Kure, Shigeo
    Matsubara, Yokhi
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (08) : 799 - 807
12345