ECTODERMAL DYSPLASIAS - A CLINICAL CLASSIFICATION AND A CAUSAL REVIEW

被引:265
作者
PINHEIRO, M
FREIREMAIA, N
机构
[1] Department of Genetics, UFPR, 81531-990 Curitiba, PR
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 53卷 / 02期
关键词
HAIR; TEETH; NAIL; SWEATING; CAUSAL DISTRIBUTION;
D O I
10.1002/ajmg.1320530207
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We present a causal review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of conditions due to autosomal dominant, autosomal recessive, and X-linked genes are, respectively, 41, 52, and 8. In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion. (C) 1994 Wiley-Liss, Inc.
引用
收藏
页码:153 / 162
页数:10
相关论文
共 42 条
  • [21] Gorlin R J, 1988, Birth Defects Orig Artic Ser, V24, P123
  • [22] GREENSTEIN AM, 1985, AM J HUM GENET S, V37, pA56
  • [23] A DISTINCT TYPE OF HYDROTIC ECTODERMAL DYSPLASIA
    HALAL, F
    SETTON, N
    WANG, NS
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (04): : 552 - 556
  • [24] TRICHO-DENTAL SYNDROME - A DISORDER WITH A SHORT HAIR CYCLE
    KERSEY, PJW
    [J]. BRITISH JOURNAL OF DERMATOLOGY, 1987, 116 (02) : 259 - 263
  • [25] INCONTINENTIA PIGMENTI ACHROMIANS (HYPOMELANOSIS OF ITO, MIM 146150) - FURTHER EVIDENCE OF LOCALIZATION AT XP11
    KOIFFMANN, CP
    DESOUZA, DH
    DIAMENT, A
    VENTURA, HB
    ALVES, RS
    KIHARA, S
    WAJNTAL, A
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (05): : 529 - 533
  • [26] MANIFESTATION OF HETEROZYGOSITY IN PAPILLON-LEFEVRE SYNDROME
    KOTZOT, D
    PFEIFFER, RA
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 46 (02): : 247 - 247
  • [27] PHENOTYPE OF CRANIOECTODERMAL DYSPLASIA WITH DIFFERENT HAIR AND BONE ABNORMALITIES
    LAMMER, EJ
    BADEN, H
    MARGOLIS, RJ
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (01): : 9 - 13
  • [28] LIPSON M, 1988, AM J MED GENET S, V4, P200
  • [29] CARDIO-FACIO-CUTANEOUS (CFC) SYNDROME IN A CHILD CARRYING AN INHERITED INVERSION OF CHROMOSOME-7
    LOPEZRANGEL, E
    HRYNCHAK, M
    FRIEDMAN, JM
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (03): : 326 - 329
  • [30] MCKUSICK VA, 1992, MENDELIAN INHERITANC, V2