Pallister-hall syndrome with hypoparathyroidism

被引:0
作者
Wacharasindhu, S
Shotelersuk, V
Srivuthana, S
Yodvisitsak, W
Suwanwela, N
Savage, MO
机构
[1] Chulalongkorn Univ, Dept Pediat, Fac Med, Bangkok 10330, Thailand
[2] Chulalongkorn Univ, Dept Radiol, Fac Med, Bangkok 10330, Thailand
[3] St Bartholomews Hosp, Dept Pediat Endocrinol, London, England
关键词
precocious puberty; hamartoma;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
We report on a 5-2/12 year-old boy who presented with convulsions, precocious puberty due to a 1.9 x 1.9 x 1.6 hypothalamic hamartoma of the tuber cinereum, and some dysmorphic features including polysyndactyly of hands and feet, suggesting the diagnosis of Pallister-Hall syndrome. Hypocalcemia due to hypoparathyroidism was demonstrated, and this combination has not been reported previously. Therefore, we can add hypoparathyroidism as another feature of Pallister-Hall syndrome.
引用
收藏
页码:801 / 803
页数:3
相关论文
共 13 条
[1]  
Biesecker LG, 1996, AM J MED GENET, V65, P76, DOI 10.1002/(SICI)1096-8628(19961002)65:1<76::AID-AJMG12>3.0.CO
[2]  
2-O
[3]  
Feuillan P, 2001, J PEDIATR ENDOCR MET, V14, P141
[4]  
Galasso C, 2001, AM J MED GENET, V99, P128, DOI 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1128>3.0.CO
[5]  
2-S
[6]   CONGENITAL HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY - A NEW SYNDROME .1. CLINICAL, CAUSAL, AND PATHOGENETIC CONSIDERATIONS [J].
HALL, JG ;
PALLISTER, PD ;
CLARREN, SK ;
BECKWITH, JB ;
WIGLESWORTH, FW ;
FRASER, FC ;
CHO, S ;
BENKE, PJ ;
REED, SD .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 7 (01) :47-74
[7]   Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome [J].
Kang, SM ;
Allen, J ;
Graham, JM ;
Grebe, T ;
Clericuzio, C ;
Patronas, N ;
Ondrey, F ;
Green, E ;
Schaffer, A ;
Abbott, M ;
Biesecker, LG .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (06) :441-446
[8]  
LOW M, 1995, CLIN GENET, V48, P209
[9]   FAMILIAL PALLISTER-HALL-SYNDROME - 3 AFFECTED OFFSPRING [J].
SILLS, IN ;
RAPAPORT, R ;
DESPOSITO, F ;
LIEBER, C .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 52 (02) :251-251
[10]   FAMILIAL PALLISTER-HALL SYNDROME - CASE-REPORT AND HORMONAL EVALUATION [J].
SILLS, IN ;
RAPAPORT, R ;
ROBINSON, LP ;
LIEBER, C ;
SHIH, LY ;
HORLICK, MNB ;
SCHWARTZ, M ;
DESPOSITO, F .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (03) :321-325