Ocular Pterygium-Digital Keloid Dysplasia

被引：9

作者：

Abarca, Hugo ^{[1
]}

Mellgren, Anne E. Christensen ^{[2
,3
]}

Trubnykova, Milana ^{[1
]}

Haugen, Olav H. ^{[2
,3
]}

Hovding, Gunnar ^{[2
,3
]}

Tveit, Kare Steinar ^{[4
]}

Houge, Gunnar ^{[3
,5
]}

Bredrup, Cecilie ^{[2
,5
]}

Hennekam, Raoul C. ^{[6
,7
]}

机构：

[1] Inst Nacl Salud Nino, Lima, Peru

[2] Haukeland Hosp, Dept Ophthalmol, N-5021 Bergen, Norway

[3] Univ Bergen, Dept Clin Med, Bergen, Norway

[4] Haukeland Hosp, Dept Dermatol, N-5021 Bergen, Norway

[5] Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway

[6] Univ Amsterdam, Dept Pediat, Emma Childrens Hosp, Amsterdam, Netherlands

[7] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2014年 / 164卷 / 11期

关键词：

keloid; childhood ocular pterygium; camptodactyly; autosomal dominant; PATIENT;

D O I：

10.1002/ajmg.a.36713

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

We describe an adolescent Peruvian male with marked, aggressive ingrowth of conjunctiva (pterygium-like) over the cornea associated with keloid formation on his distal limbs. He has in addition camptodactyly of all fingers and to some extent of his toes, and unusual skin pigmentations. He resembles an earlier described family from Norway in which a mother and two children showed a similar combination of signs. We present the follow-up of the Norwegian family. The entity resembles the Penttinen syndrome but can be differentiated due to the early aging in the latter, which is lacking in the presently reported entity. We suggest naming this entity ocular pterygium-digital keloid dysplasia. The condition follows likely an autosomal dominant pattern of inheritance. (c) 2014 Wiley Periodicals, Inc.

引用

页码：2901 / 2907

页数：7

共 24 条

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