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一名患有生殖器模糊和雄激素受体缺乏的男婴出现了罗宾诺综合征或“胎儿面容综合征”。

Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency.

作者信息

Schönau E, Pfeiffer R A, Schweikert H U, Böwing B, Schott G

机构信息

Universitätsklinik für Kinder und Jugendliche, Erlangen, Federal Republic of Germany.

出版信息

Eur J Pediatr. 1990 Jun;149(9):615-7. doi: 10.1007/BF02034745.

DOI:10.1007/BF02034745
PMID:2373109
Abstract

Typical features of the "fetal face" or Robinow syndrome are reported in a male infant who presented with ambiguous genitalia and persistence of the Mullerian ducts. Histology of the testes was normal whereas endocrinological studies showed partial deficiency of androgen receptors.

摘要

一名患有生殖器模糊和苗勒管持续存在的男婴被报道具有“胎儿面容”或罗宾诺综合征的典型特征。睾丸组织学正常,而内分泌学研究显示雄激素受体部分缺乏。

相似文献

1
Robinow or "fetal face syndrome" in a male infant with ambiguous genitalia and androgen receptor deficiency.一名患有生殖器模糊和雄激素受体缺乏的男婴出现了罗宾诺综合征或“胎儿面容综合征”。
Eur J Pediatr. 1990 Jun;149(9):615-7. doi: 10.1007/BF02034745.
2
[The fetal face syndrome or Robinow syndrome. Description of a case (clinical and immunological aspects)].
Minerva Pediatr. 1980 Jan 15;32(1):47-52.
3
[Fetal face syndrome (Robinow syndrome].[胎儿面部综合征(罗宾诺综合征)]
Cesk Pediatr. 1981 Jun;36(6):328-30.
4
[Robinow's syndrome with dominant transmission].
Arch Fr Pediatr. 1982 Aug-Sep;39(7):447-8.
5
[Gonadosomal dysgenesia with 49 chromosomes].[伴有49条染色体的性腺发育不全]
Ann Pediatr (Paris). 1969 Dec 2;16(12):768-72.
6
Ambiguous genitalia in a male infant with persistent Mullerian structure syndrome.一名患有持续性苗勒管结构综合征的男婴出现两性畸形生殖器。
Indian Pediatr. 1982 Nov;19(11):943-5.
7
A large inguinal hernia with undescended testes and micropenis in Robinow syndrome.一名患有罗宾诺综合征的患者,存在大型腹股沟疝、隐睾和小阴茎。
Clin Dysmorphol. 1996 Apr;5(2):175-8. doi: 10.1097/00019605-199604000-00011.
8
Robinow Syndrome: a case report.鲁宾诺综合征:一例报告。
Genet Couns. 2005;16(3):297-300.
9
Robinow syndrome (Fetal Face syndrome).罗宾诺综合征(胎儿面容综合征)。
Indian Pediatr. 1983 Oct;20(10):783-7.
10
Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome).
Am J Med Genet. 1989 Nov;34(3):305-12. doi: 10.1002/ajmg.1320340302.

引用本文的文献

1
Robinow syndrome.罗宾诺综合征
J Med Genet. 2002 May;39(5):305-10. doi: 10.1136/jmg.39.5.305.
2
Robinow syndrome in two siblings from consanguineous parents.来自近亲父母的两名兄弟姐妹患鲁宾诺综合征。
Eur J Pediatr. 1992 Aug;151(8):586-9. doi: 10.1007/BF01957728.

本文引用的文献

1
Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate.罗宾诺综合征的男性间传播。其与唇腭裂的关联发生情况。
Am J Dis Child. 1982 Jul;136(7):594-7. doi: 10.1001/archpedi.1982.03970430026007.
2
Robinow's syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis.罗宾诺综合征。青春期男孩部分原发性性腺功能减退,伴有小阴茎持续存在。
Am J Dis Child. 1982 Apr;136(4):327-30.
3
A newly recognized dwarfing syndrome.一种新发现的侏儒综合征。
Am J Dis Child. 1969 Jun;117(6):645-51. doi: 10.1001/archpedi.1969.02100030647005.
4
[Complex of multiple malformations in two unrelated children (author's transl)].两名非亲属儿童的多重畸形综合征(作者译)
Padiatr Padol. 1971;6(3):262-7.
5
Robinow syndrome: report of two patients and review of literature.罗宾诺综合征:两例患者报告及文献综述
Clin Genet. 1987 Feb;31(2):77-85. doi: 10.1111/j.1399-0004.1987.tb02773.x.
6
Intracellular and nuclear binding of [3H]dihydrotestosterone in cultured genital skin fibroblasts of patients with severe hypospadias.重度尿道下裂患者培养的生殖器皮肤成纤维细胞中[3H]二氢睾酮的细胞内和细胞核结合
J Clin Invest. 1989 Feb;83(2):662-8. doi: 10.1172/JCI113930.
7
Dihydrotestosterone formation in cultured human fibroblasts. Comparison of cells from normal subjects and patients with familial incomplete male pseudohermaphroditism, Type 2.
J Biol Chem. 1975 May 10;250(9):3498-504.
8
The Robinow syndrome: an isolated case with a detailed study of the phenotype.
Am J Dis Child. 1975 Mar;129(3):383-6. doi: 10.1001/archpedi.1975.02120400081022.
9
Testicular feminization associated with a thermolabile androgen receptor in culutred human fibroblasts.培养的人成纤维细胞中与热不稳定雄激素受体相关的睾丸女性化
J Clin Invest. 1979 Dec;64(6):1624-31. doi: 10.1172/JCI109624.