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毛发-牙发育异常:一种具有独特牙齿表现的罕见综合征。

Trichodental dysplasia: a rare syndrome with distinct dental findings.

作者信息

Montalvan Ericka, Mazzone Christina, Tofsky Nanci, Mupparapu Muralidhar

机构信息

Department of Pediatric Dentistry, New Jersey Dental School, University of Medicine and Dentistry New Jersey, Newark, USA.

出版信息

Pediatr Dent. 2006 Jul-Aug;28(4):345-9.

PMID:16903444
Abstract

The association of fine, dry, short hair and the developmental absence of several teeth has been associated with a rare autosomal dominant variant of ectodermal dysplasia known as trichodental syndrome or trichodental dysplasia. The purpose of this study was to present the case of a 4-year-old boy with trichodental syndrome. Clinical, radiographic, and genetic manifestations are described, along with a pertinent review of the literature.

摘要

细软、干燥、短发与多颗牙齿发育缺失的关联已被证实与一种罕见的常染色体显性外胚层发育不良变异有关,即毛发-牙综合征或毛发-牙发育不良。本研究的目的是报告一名患有毛发-牙综合征的4岁男孩的病例。文中描述了其临床、影像学和遗传学表现,并对相关文献进行了综述。

相似文献

1
Trichodental dysplasia: a rare syndrome with distinct dental findings.毛发-牙发育异常:一种具有独特牙齿表现的罕见综合征。
Pediatr Dent. 2006 Jul-Aug;28(4):345-9.
2
Sporadic trichodental dysplasia with microcephaly and mental retardation.伴有小头畸形和智力障碍的散发性毛发牙发育异常
Clin Dysmorphol. 1995 Oct;4(4):334-7. doi: 10.1097/00019605-199510000-00009.
3
[Ectodermal dysplasia with severe odontodysplasia. Study of an affected family].
Rev Stomatol Chir Maxillofac. 1988;89(2):102-5.
4
Pilodentoungulardysplasia with microcephaly: a new ectodermal dysplasia/malformation syndrome.伴有小头畸形的毛发齿舌发育异常:一种新的外胚层发育异常/畸形综合征。
Am J Med Genet. 1987 Jan;26(1):153-6. doi: 10.1002/ajmg.1320260123.
5
A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.三例同胞患类拉普-霍奇金综合征:临床、牙科及皮纹学研究
Clin Dysmorphol. 1999 Apr;8(2):101-10.
6
Phenotype of cranioectodermal dysplasia with different hair and bone abnormalities.
Am J Med Genet. 1993 Jan 1;45(1):9-13. doi: 10.1002/ajmg.1320450105.
7
Hypohydrotic ectodermal dysplasia: an unusual presentation and management in an 11-year-old Xhosa boy.少汗型外胚层发育不良:一名11岁科萨男孩的罕见病例及治疗
SADJ. 2000 Jan;55(1):34-7.
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[Hypohidrotic ectodermal dysplasia: A cause of fever of unknown origin].[少汗型外胚层发育不良:不明原因发热的一个病因]
An Esp Pediatr. 2002 Mar;56(3):253-7.
9
Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation: a possible "new" form of ectodermal dysplasia.头发稀疏、身材矮小、拇指发育不全、上颌中切牙单一以及皮肤色素沉着异常:一种可能的“新”型外胚层发育不良。
Am J Med Genet. 1988 Jan;29(1):209-16. doi: 10.1002/ajmg.1320290127.
10
Further delineation of the odonto-onycho-dermal dysplasia syndrome.齿-甲-皮肤发育不良综合征的进一步描述。
Am J Med Genet A. 2004 Aug 30;129A(2):193-7. doi: 10.1002/ajmg.a.30188.

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Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz.先天性毛发异常与恒牙萌出不全:一则病例问答
Acta Derm Venereol. 2020 Jul 28;100(14):adv00223. doi: 10.2340/00015555-3592.