SCLEROSTEOSIS IN A SPANISH MALE - FIRST REPORT IN A PERSON OF MEDITERRANEAN ORIGIN

被引：27
作者：
BUENO, M
OLIVAN, G
JIMENEZ, A
GARAGORRI, JM
SARRIA, A
BUENO, AL
BUENO, M
RAMOS, FJ
机构：
[1] UNIV ZARAGOZA, HOSP CLIN UNIV LOZANO BLESA, FAC MED, DEPT TRAUMATOL, ZARAGOZA, SPAIN
[2] UNIV ZARAGOZA, AREA PEDIAT, ZARAGOZA, SPAIN
来源：
JOURNAL OF MEDICAL GENETICS | 1994年 / 31卷 / 12期
关键词：
D O I：
10.1136/jmg.31.12.976
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report the first observation of sclerosteosis in Spain. To the best of our knowledge, this is the first case of sclerosteosis in a person of Mediterranean origin with no known Dutch ancestors. He has the characteristic phenotype of the disease with right facial nerve palsy and syndactyly and the typical radiological features, including generalised bone sclerosis and cortical widening of the tubular bones.
引用
收藏
页码：976 / 977
页数：2
相关论文
共 10 条
  • [1] INTERNATIONAL CLASSIFICATION OF OSTEOCHONDRODYSPLASIAS
    BEIGHTON, P
    GIEDION, A
    GORLIN, R
    HALL, J
    HORTON, B
    KOZLOWSKI, K
    LACHMAN, R
    LANGER, LO
    MAROTEAUX, P
    POZNANSKI, A
    RIMOIN, DL
    SILLENCE, D
    SPRANGER, J
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 44 (02): : 223 - 229
  • [2] CLINICAL FEATURES OF SCLEROSTEOSIS - REVIEW OF MANIFESTATIONS IN 25 AFFECTED INDIVIDUALS
    BEIGHTON, P
    DURR, L
    HAMERSMA, H
    [J]. ANNALS OF INTERNAL MEDICINE, 1976, 84 (04) : 393 - 397
  • [3] BEIGHTON P, 1979, S AFR MED J, V55, P783
  • [4] DEPAES AF, 1982, REV BRAS GENET, V5, P825
  • [5] SCLEROSING BONE DYSPLASIAS - A TARGET-SITE APPROACH
    GREENSPAN, A
    [J]. SKELETAL RADIOLOGY, 1991, 20 (08) : 561 - 583
  • [6] Hansen H.G., 1967, HDB KINDERHEILKUNDE, P351
  • [7] Higinbotham N., 1941, AM J SURG, V53, P444
  • [8] PIETRUSCHKA G, 1958, Klin Monbl Augenheilkd Augenarztl Fortbild, V132, P509
  • [9] SCLEROSTEOSIS - NEUROGENETIC AND PATHOPHYSIOLOGIC ANALYSIS OF AN AMERICAN KINSHIP
    STEIN, SA
    WITKOP, C
    HILL, S
    FALLON, MD
    VIERNSTEIN, L
    GUCER, G
    MCKEEVER, P
    LONG, D
    ALTMAN, J
    MILLER, NR
    TEITELBAUM, SL
    SCHLESINGER, S
    [J]. NEUROLOGY, 1983, 33 (03) : 267 - 277
  • [10] SCLEROSTENOSIS - CASE REPORT
    SUGIURA, Y
    YASUHARA, T
    [J]. JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 1975, A 57 (02) : 273 - 276
1