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Aarskog syndrome with isolated growth hormone deficiency.

作者信息

Kodama M, Fujimoto S, Namikawa T, Matsuda I

出版信息

Eur J Pediatr. 1981 Feb;135(3):273-6. doi: 10.1007/BF00442102.

DOI:10.1007/BF00442102
PMID:7227381
Abstract

A 5-year-old male with the Aarskog syndrome is described. He had abnormal facies, short stature, short fingers with interdigital webbing, a saddle type scrotum and mild mental retardation. In addition, he had isolated growth hormone deficiency as evidenced by the insulin, arginine, and propranolol-glucagon tests. An arginine test after short-term stimulation with estrogen further supported this diagnosis. His mother had minor abnormalities of the hands and feet, and slight mental retardation.

摘要

相似文献

1
Aarskog syndrome with isolated growth hormone deficiency.
Eur J Pediatr. 1981 Feb;135(3):273-6. doi: 10.1007/BF00442102.
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本文引用的文献

1
A familial syndrome of short stature associated with facial dysplasia and genital anomalies.
J Pediatr. 1970 Nov;77(5):856-61. doi: 10.1016/s0022-3476(70)80247-5.
2
Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome.
Birth Defects Orig Artic Ser. 1971 May;7(6):240-6.
3
The Aarskog syndrome.阿斯克格综合征
J Pediatr. 1972 Dec;81(6):1117-22. doi: 10.1016/s0022-3476(72)80242-7.
4
The Aarskog syndrome in three brothers.
三兄弟患Aarskog综合征。
Clin Genet. 1974;6(2):119-24. doi: 10.1111/j.1399-0004.1974.tb00639.x.
5
The facial-digital-genital (Aarskog) syndrome.
Am J Dis Child. 1973 Aug;126(2):248-52. doi: 10.1001/archpedi.1973.02110190218022.
6
Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature.伴有特殊面容、关节活动过度、生殖器异常及身材矮小的阿斯克格-斯科特综合征。
Birth Defects Orig Artic Ser. 1975;11(2):453-5.
7
The Aarskog-Scott syndrome in four brothers.四兄弟患阿尔斯科格-斯科特综合征。
Birth Defects Orig Artic Ser. 1975;11(2):25-9.
8
The inheritance of the Aarskog facial-digital-genital syndrome.
J Pediatr. 1975 Jun;86(6):885-91. doi: 10.1016/s0022-3476(75)80219-8.
9
Aarskog syndrome. New findings and genetic analysis.
JAMA. 1978 Dec 8;240(24):2638-41. doi: 10.1001/jama.240.24.2638.