SKIN MANIFESTATIONS OF CARDIO-FACIO-CUTANEOUS SYNDROME

被引:26
作者
BORRADORI, L
BLANCHETBARDON, C
机构
[1] CHU VAUDOIS,SERV DERMATOL,CH-1011 LAUSANNE,SWITZERLAND
[2] CHU ST LOUIS,MALAD CUTANEES LAB,PARIS,FRANCE
关键词
D O I
10.1016/0190-9622(93)70108-6
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
The recently described cardio-facio-cutaneous syndrome is within the spectrum of multiple congenital anomalies-mental retardation syndromes. We describe two additional cases and review 22 previously reported cases. Our two patients had many of the cardinal features of the disorder: a peculiar craniofacial appearance with sparse curly hair, low-set posteriorly rotated ears, moderate to severe mental retardation, heart defects, and cutaneous abnormalities such as ichthyosis, widespread keratosis pilaris, keratosis pilaris atrophicans faciei, and palmoplantar keratoderma.
引用
收藏
页码:815 / 819
页数:5
相关论文
共 23 条
[1]   NOONAN SYNDROME [J].
ALLANSON, JE .
JOURNAL OF MEDICAL GENETICS, 1987, 24 (01) :9-13
[2]   THE CARDIO-FACIO-CUTANEOUS SYNDROME - REPORT OF A PATIENT AND REVIEW OF THE LITERATURE [J].
BOTTANI, A ;
HAMMERER, I ;
SCHINZEL, A .
EUROPEAN JOURNAL OF PEDIATRICS, 1991, 150 (07) :486-488
[3]   CARDIO-FACIO-CUTANEOUS (CFC) SYNDROME - REPORT OF A NEW PATIENT [J].
CHRZANOWSKA, K ;
FRYNS, JP ;
VANDENBERGHE, H .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 33 (04) :471-473
[4]   NOONAN SYNDROME - REVIEW OF CLINICAL AND GENETIC FEATURES OF 27 CASES [J].
COLLINS, E ;
TURNER, G .
JOURNAL OF PEDIATRICS, 1973, 83 (06) :941-950
[5]   THE CARDIO-FACIO-CUTANEOUS (CFC) SYNDROME AND NOONAN SYNDROME - ARE THEY THE SAME [J].
FRYER, AE ;
HOLT, PJ ;
HUGHES, HE .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (04) :548-551
[6]  
GROB JJ, 1988, ANN DERMATOL VENER, V115, P303
[7]  
GROSSTSUR V, 1990, CLIN GENET, V38, P382
[8]   CARDIO-FACIO-CUTANEOUS (CFC) SYNDROME - REPORT OF 2 PATIENTS WITHOUT HYPERKERATOTIC SKIN-LESIONS [J].
MATSUDA, Y ;
MURANO, I ;
KONDOH, O ;
MATSUO, K ;
KAJII, T .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 39 (02) :144-147
[9]  
MCKUSICK VA, 1988, MENDELIAN INHERITANC
[10]   NOONAN SYNDROME - A REVIEW [J].
MENDEZ, HMM ;
OPITZ, JM .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (03) :493-506