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与腭裂和牙量不足相关的拉普-霍奇金综合征的牙科管理。

Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia.

作者信息

Karthikeyani Shanmugasundaram, Thirumurthy Velliangattur Ramasamy, Yuvaraja Bindhoo A

机构信息

Department of Pedodontics and Preventive Children Dentistry, Sri Ramakrishna Dental College and Hospital, Coimbatore, Tamil Nadu, India.

出版信息

J Indian Soc Pedod Prev Dent. 2016 Apr-Jun;34(2):192-5. doi: 10.4103/0970-4388.180453.

Abstract

Rapp-Hodgkin syndrome (RHS) is a rare type of autosomal dominant disorder characterized by association of ectodermal dysplasia (ED) with cleft lip/palate. The main features include dry, brittle hair with alopecia in adulthood, dental anomalies (hypodontia, microdontia with delayed eruption, fissured tongue, and retruded maxilla), hypohidrosis, dysplastic nails, and clefting. Palmar-plantar keratoderma is seen frequently. RHS has signs and symptoms that overlap considerably with those of ankyloblepharon-ED-clefting syndrome and ectrodactyly-ED-clefting syndrome. This manuscript discusses a case of RHS, one of the four members in three generations who had ED with variable degree of involvement of hair, teeth, nail, and sweat glands.

摘要

拉普-霍奇金综合征(RHS)是一种罕见的常染色体显性疾病,其特征为外胚层发育不良(ED)与唇腭裂相关联。主要特征包括成年后头发干燥、易脆并伴有脱发,牙齿异常(牙齿发育不全、小牙伴萌出延迟、沟纹舌和上颌后缩),少汗,指甲发育异常,以及腭裂。掌跖角化病较为常见。RHS的体征和症状与睑缘粘连-外胚层发育不良-腭裂综合征和缺指(趾)-外胚层发育不良-腭裂综合征有相当大的重叠。本文讨论了一例RHS病例,该病例是三代人中的四名成员之一,患有外胚层发育不良,毛发、牙齿、指甲和汗腺受累程度各异。

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