FAMILIAL PALLISTER-HALL SYNDROME - CASE-REPORT AND HORMONAL EVALUATION

被引:26
|
作者
SILLS, IN
RAPAPORT, R
ROBINSON, LP
LIEBER, C
SHIH, LY
HORLICK, MNB
SCHWARTZ, M
DESPOSITO, F
机构
[1] UMDNJ,NEW JERSEY MED SCH,DEPT OBSTET GYNECOL,HACKENSACK,NJ
[2] HACKENSACK MED CTR,GENET SERV,HACKENSACK,NJ
[3] UMDNJ,NEW JERSEY MED SCH,NEWARK,NJ 07107
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 03期
关键词
HYPOTHALAMIC HAMARTOBLASTOMA; HYPOPITUITARISM; FAMILIAL; AUTOSOMAL RECESSIVE INHERITANCE;
D O I
10.1002/ajmg.1320470305
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Pallister-Hall syndrome is a usually lethal dysplasia/malformation syndrome characterized by hypothalamic hamartoblastoma, hypopituitarism, postaxial polydactyly, craniofacial malformations, imperforate anus, and other malformations. We report a familial case in a male infant and his female sib fetus, suggesting autosomal recessive inheritance, or germinal mosaicism for an autosomal dominant mutation, or a segregating submicroscopic chromosome abnormality. Detailed endocrine evaluation on the surviving infant revealed documented pituitary function, pituitary deficit, and hypothalamic deficiency. We suggest that hypothalamic dysfunction contributes to the hypopituitarism seen in Pallister-Hall syndrome. (C) 1993 Wiley-Liss, Inc.
引用
收藏
页码:321 / 325
页数:5
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