PANOSTOTIC FIBROUS DYSPLASIA - A CONGENITAL DISORDER OF BONE WITH UNUSUAL FACIAL APPEARANCE, BONE FRAGILITY, HYPERPHOSPHATASEMIA, AND HYPOPHOSPHATEMIA

被引:15
作者
COLE, DEC
FRASER, FC
GLORIEUX, FH
JEQUIER, S
MARIE, PJ
READE, TM
SCRIVER, CR
机构
[1] MCGILL UNIV,MONTREAL SHRINERS HOSP,GENET UNIT,MONTREAL H3C 3G1,QUEBEC,CANADA
[2] MCGILL UNIV,MONTREAL CHILDRENS HOSP,DEPT GENET,MONTREAL H3H 1P3,QUEBEC,CANADA
[3] MCGILL UNIV,MONTREAL CHILDRENS HOSP,DEPT RADIOL,MONTREAL H3H 1P3,QUEBEC,CANADA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1983年 / 14卷 / 04期
关键词
D O I
10.1002/ajmg.1320140414
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:725 / 735
页数:11
相关论文
共 24 条
[1]   Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females - Report of five cases [J].
Albright, F ;
Butler, AM ;
Hampton, AO ;
Smith, P .
NEW ENGLAND JOURNAL OF MEDICINE, 1937, 216 :727-746
[2]   INHERITANCE OF AARSKOG FACIAL-DIGITAL-GENITAL SYNDROME [J].
BERMAN, P ;
DESJARDINS, C ;
FRASER, FC .
JOURNAL OF PEDIATRICS, 1975, 86 (06) :885-891
[3]   FAMILIAL IDIOPATHIC HYPERPHOSPHATASIA - STUDY OF 2 YOUNG SIBLINGS TREATED WITH PORCINE CALCITONIN [J].
BLANCO, O ;
STIVEL, M ;
MAUTALEN, C ;
SCHAJOWICZ, F .
JOURNAL OF BONE AND JOINT SURGERY-BRITISH VOLUME, 1977, 59 (04) :421-427
[4]   VITAMIN-D-DEPENDENT RICKETS TYPE-II - RESISTANCE OF TARGET ORGANS TO 1,25-DIHYDROXYVITAMIN-D [J].
BROOKS, MH ;
BELL, NH ;
LOVE, L ;
STERN, PH ;
ORFEI, E ;
QUEENER, SF ;
HAMSTRA, AJ ;
DELUCA, HF .
NEW ENGLAND JOURNAL OF MEDICINE, 1978, 298 (18) :996-999
[5]   X-LINKED HYPOPHOSPHATEMIA - EFFECT OF CALCITRIOL ON RENAL HANDLING OF PHOSPHATE, SERUM PHOSPHATE, AND BONE MINERALIZATION [J].
COSTA, T ;
MARIE, PJ ;
SCRIVER, CR ;
COLE, DEC ;
READE, TM ;
NOGRADY, B ;
GLORIEUX, FH ;
DELVIN, EE .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1981, 52 (03) :463-472
[6]  
DOYLE FH, 1974, BRIT J RADIOL, V47, P9, DOI 10.1259/0007-1285-47-553-9
[7]   EFFECTS OF 2 DIPHOSPHONATES ON BONE METABOLISM IN THE RAT [J].
EVANS, RA ;
BAYLINK, DJ ;
WERGEDAL, J .
METABOLIC BONE DISEASE & RELATED RESEARCH, 1979, 2 (01) :39-48
[8]   GAMMA-CARBOXYGLUTAMATE ANALYSIS BY SELECTIVE ANION-EXCHANGE ELUTION AND FLUORESCENT DETECTION [J].
GUNDBERG, CM ;
LIAN, JB ;
GALLOP, PM .
ANALYTICAL BIOCHEMISTRY, 1979, 98 (01) :219-225
[9]   HEREDITARY BONE DYSPLASIA WITH HYPERPHOSPHATASEMIA - RESPONSE TO SYNTHETIC HUMAN CALCITONIN [J].
HORWITH, M ;
NUNEZ, EA ;
KROOK, L ;
VITERI, F ;
TORUN, B ;
MENA, E ;
SUH, SM ;
EISENBERG, E ;
MACINTYRE, I ;
WHALEN, JP .
CLINICAL ENDOCRINOLOGY, 1976, 5 :S341-S352
[10]   PROGRESSIVE DIAPHYSEAL DYSPLASIA - REVIEW OF LITERATURE AND REPORT OF 7 CASES IN ONE FAMILY [J].
HUNDLEY, JD ;
WILSON, FC .
JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 1973, A 55 (03) :461-474