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Hand-foot-uterus-(HFU) syndrome with hypospadias: the hand-foot-genital- (HFG) syndrome.

作者信息

Giedion A, Prader A

出版信息

Pediatr Radiol. 1976 Feb 13;4(2):96-102. doi: 10.1007/BF00973951.

DOI:10.1007/BF00973951
PMID:987572
Abstract

Three brothers with the typical findings of the HFU-syndrome, but in addition with various degrees of hypospadias are reported. The family history otherwise was negative. The similarity of the "pattern-profile" of these cases with the mean pattern of the 11 previously reported ones is striking, as expressed by a product moment correlation of 0.83, 0.8 and 0.78 respectively. The widening of the concept of the HFU to that of a HFG-syndrome, as suggested by Poznanski et al, in 1974, is discussed.

摘要

相似文献

1
Hand-foot-uterus-(HFU) syndrome with hypospadias: the hand-foot-genital- (HFG) syndrome.
Pediatr Radiol. 1976 Feb 13;4(2):96-102. doi: 10.1007/BF00973951.
2
Mutation of HOXA13 in hand-foot-genital syndrome.手足生殖器综合征中HOXA13的突变
Nat Genet. 1997 Feb;15(2):179-80. doi: 10.1038/ng0297-179.
3
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[Hand-foot-uterus syndrome (or hand-foot-genital syndrome)].[手足子宫综合征(或手足生殖器综合征)]
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6
Associated acral and renal malformations: a new syndrome?
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The hand-foot-genital syndrome: on the variable expression in affected males.手足生殖器综合征:关于患病男性的可变表现。
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10
The hand-food-uterus syndrome: a new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract.手-足-子宫综合征:一种以手足发育异常、皮纹异常及女性生殖道部分重复为特征的新型遗传性疾病。
J Pediatr. 1970 Jul;77(1):109-16. doi: 10.1016/s0022-3476(70)80052-x.

引用本文的文献

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Ann Med Surg (Lond). 2021 Jan 19;62:175-178. doi: 10.1016/j.amsu.2021.01.032. eCollection 2021 Feb.
2
A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies.一个家族性的手足生殖器综合征中 HOXA13 的新型突变,以及多聚丙氨酸扩展在 Müllerian 融合异常谱中的作用。
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本文引用的文献

1
Cone-shaped epiphyses of the hands and their diagnostic value. The tricho-rhino-phalangeal syndrome.
Ann Radiol (Paris). 1967;10(3):322-9.
2
The hand-food-uterus syndrome: a new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract.手-足-子宫综合征:一种以手足发育异常、皮纹异常及女性生殖道部分重复为特征的新型遗传性疾病。
J Pediatr. 1970 Jul;77(1):109-16. doi: 10.1016/s0022-3476(70)80052-x.
3
Radiographic findings in the hand-foot-uterus syndrome (HFUS).手足子宫综合征(HFUS)的影像学表现。
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
新型HOXA13突变与手足生殖器综合征的表型谱
Am J Hum Genet. 2000 Jul;67(1):197-202. doi: 10.1086/302961. Epub 2000 Jun 5.
4
Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method.临床遗传学中的掌指纹型分析:一种应用人体测量学方法
Am J Phys Anthropol. 1986 Jun;70(2):195-201. doi: 10.1002/ajpa.1330700206.
5
Hand-foot-genital syndrome: the importance of hallux varus.手足生殖器综合征:拇内翻的重要性。
Pediatr Radiol. 1990;20(5):339-43. doi: 10.1007/BF02013170.
Radiology. 1970 Apr;95(1):129-34. doi: 10.1148/95.1.129.
4
Skeletal measurement in the evaluation of congenital malformation syndromes.
Birth Defects Orig Artic Ser. 1974;10(9):125-38.
5
Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.掌指骨形态轮廓在骨骼畸形评估中的应用
Radiology. 1972 Jul;104(1):1-11. doi: 10.1148/104.1.1.
6
Genetic studies on hypospadias in males.男性尿道下裂的遗传学研究。
J Med Genet. 1971 Jun;8(2):153-9. doi: 10.1136/jmg.8.2.153.
7
A new family with the hand-foot-genital syndrome--a wider spectrum of the hamd-foot-uterus syndrome.
Birth Defects Orig Artic Ser. 1975;11(4):127-35.