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一种以毛发脆化伴形态学和生化异常、发育迟缓及身材正常为特征的综合征。

A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature.

作者信息

Arbisser A I, Scott C I, Howell R R, Ong P S, Cox H L

出版信息

Birth Defects Orig Artic Ser. 1976;12(5):219-28.

PMID:953226
Abstract

We have presented 2 affected sibs-a male and female-with unaffected parents and sib from a small remote northern Mexican village. The syndrome includes mental deficit, brittle hair with decreased cuticular layer and an apparently collapsed cortex. The patients' hair contains decreased sulfur content and increased concentrations of trace elements as determined by x-ray fluorescent spectroscopy. Studies are underway to evaluate other apparently similarly affected children from the village where our family originated.

摘要

我们报告了来自墨西哥北部一个偏远小村庄的一对患病同胞(一男一女),其父母和其他同胞未患病。该综合征包括智力缺陷、角质层变薄的脆发以及明显萎缩的皮质。通过X射线荧光光谱法测定,患者头发中的硫含量降低,微量元素浓度升高。我们正在对来自患者家族所在村庄的其他明显类似患病儿童进行评估。

相似文献

1
A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature.一种以毛发脆化伴形态学和生化异常、发育迟缓及身材正常为特征的综合征。
Birth Defects Orig Artic Ser. 1976;12(5):219-28.
2
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Am J Med Genet. 1990 Apr;35(4):566-73. doi: 10.1002/ajmg.1320350424.
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Sabinas syndrome in monozygotic twins.单卵双胞胎中的萨比纳斯综合征。
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Abnormal hair, craniofacial dysmorphism, and severe mental retardation - a new syndrome?
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New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.门诺派姐妹中出现的毛发稀疏、骨质减少和智力迟钝的新型常染色体隐性综合征。
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"Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred.身材矮小、智力障碍和生育能力下降伴“易脆”头发:阿米什家族中的一种常染色体隐性综合征。
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[Trichothiodystrophy].毛发硫营养不良
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Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.一名患有PIBI(D)S综合征和毛发硫营养不良伴DNA修复缺陷——着色性干皮病D组的儿童出现间歇性脱发。
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Congenital hair defects.
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引用本文的文献

1
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.非光感性先天性毛发硫营养不良表型谱的面容:对儿科人群的后续研究。
Mol Genet Genomic Med. 2024 Aug;12(8):e2501. doi: 10.1002/mgg3.2501.
2
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.毛发硫营养不良:对112例已发表病例的系统评价描绘了广泛的临床表现谱。
J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25.
3
Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.
毛发硫营养不良-波利特神经皮肤综合征:两例非亲缘关系病例报告。
J Med Genet. 1984 Aug;21(4):286-9. doi: 10.1136/jmg.21.4.286.
4
The trichothiodystrophy syndrome of Pollitt.波利特毛发硫营养不良综合征
Pediatr Radiol. 1988;18(2):154-6. doi: 10.1007/BF02387560.
5
Trichothiodystrophy, xeroderma pigmentosum and PIBI(D)S syndrome.
Hum Genet. 1988 Jan;78(1):106-8. doi: 10.1007/BF00291250.