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LADD综合征:新病例报告及临床谱回顾

LADD syndrome: report of new cases and review of the clinical spectrum.

作者信息

Wiedemann H R, Drescher J

出版信息

Eur J Pediatr. 1986 Apr;144(6):579-82. doi: 10.1007/BF00496040.

DOI:10.1007/BF00496040
PMID:3709571
Abstract

The lacrimo-auriculo-dento-digital or LADD syndrome is a true multiple congenital anomalies (MCA) syndrome characterized by hypoplasias, aplasias or atresias in the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, aplasias or atresias in the region of the salivary system; dental anomalies; and digital malformations. The syndrome is thought to be an autosomal dominant trait with variable expressivity. It seems to be rare. Two new cases are reported and the clinical spectrum of the syndrome is reviewed. The paediatrician who is responsible for the child as a whole individual should know the LADD syndrome. Its early recognition may be important.

摘要

泪腺-耳-齿-指综合征(LADD综合征)是一种典型的多发性先天性畸形(MCA)综合征,其特征为泪腺系统发育不全、发育不良或闭锁;耳部异常及听力丧失;唾液腺系统区域发育不全、发育不良或闭锁;牙齿异常;以及手指畸形。该综合征被认为是一种具有可变表达性的常染色体显性性状。它似乎很罕见。本文报告了两例新病例,并对该综合征的临床谱进行了综述。负责儿童整体健康的儿科医生应该了解LADD综合征。早期识别可能很重要。

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1
LADD syndrome: report of new cases and review of the clinical spectrum.LADD综合征:新病例报告及临床谱回顾
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2
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4
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引用本文的文献

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Hypolacrimia and Alacrimia as Diagnostic Features for Genetic or Congenital Conditions.低泪液分泌症和无泪液分泌症作为遗传或先天性疾病的诊断特征。
Invest Ophthalmol Vis Sci. 2022 Aug 2;63(9):3. doi: 10.1167/iovs.63.9.3.
2
Lacrimo-auriculo-dento-digital syndrome: A case report and literature review.泪腺-耳-齿-指综合征:一例病例报告及文献综述
Saudi J Ophthalmol. 2022 Feb 18;35(2):152-158. doi: 10.4103/1319-4534.337856. eCollection 2021 Apr-Jun.
3
Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.

本文引用的文献

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Congenital Absence of all Four Puncta.先天性四联泪点缺失
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泪耳齿指综合征:一个韩国家族的新突变及文献复习。
Mol Genet Genomic Med. 2020 Oct;8(10):e1412. doi: 10.1002/mgg3.1412. Epub 2020 Jul 26.
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Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants. Holt-Oram 综合征:TBX5 变异患者的临床和分子描述。
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Salivary Gland Dysplasia in Fgf10 Heterozygous Mice: A New Mouse Model of Xerostomia.Fgf10 杂合小鼠的唾液腺发育异常:一种新的口干症小鼠模型。
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[The Levy-Hollister syndrome: a syndrome of dysplasias with ENT-manifestations].[利维 - 霍利斯特综合征:一种伴有耳鼻喉表现的发育异常综合征]
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Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.一个家族中的裂手/裂足畸形与LADD综合征:EEC综合征和LADD综合征之间的重叠
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Lacrimo-auriculo-dento-digital (LADD) syndrome.泪腺-耳-齿-指(LADD)综合征
Eur J Pediatr. 1987 Sep;146(5):536-7. doi: 10.1007/BF00441613.
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[Hereditary factor in obstructions of the lacrimal apparatus with special reference to atresia of the puncta lacrimalia and lacrimal ducts].[泪器阻塞的遗传因素,特别提及泪点和泪管闭锁]
Bibl Ophthalmol. 1957;12(47):584-90.
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Congenital absence of the lacrimal puncta associated with alacrima and aptyalism.
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Mesoectodermal dysplasia. A new combination of anomalies.
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The lacrimo-auriculo-dento-digital syndrome.泪腺-耳-齿-指综合征
J Pediatr. 1973 Sep;83(3):438-44. doi: 10.1016/s0022-3476(73)80268-9.
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Lacrimo-auriculo-dento-digital (LADD) syndrome.
Birth Defects Orig Artic Ser. 1974;10(5):153-66.
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Phenotypic variation in LADD syndrome.LADD综合征的表型变异
J Med Genet. 1985 Oct;22(5):382-5. doi: 10.1136/jmg.22.5.382.
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Hereditary congenital alacrima.遗传性先天性无泪症。
Arch Ophthalmol. 1976 Sep;94(9):1478-84. doi: 10.1001/archopht.1976.03910040312003.