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Corneal clouding, subvalvular aortic stenosis, and midfacial hypoplasia associated with mental deficiency and growth retardation--a new syndrome?

作者信息

Fryns J P, Van den Berghe H

出版信息

Eur J Pediatr. 1979 Jun 28;131(3):179-83. doi: 10.1007/BF00538941.

DOI:10.1007/BF00538941
PMID:573203
Abstract

Two siblings, a 17 year-old female and a 15 year-old boy, with a hitherto unidentified malformation syndrome are reported. Both presented with corneal clouding, subvalvular aortic stenosis, midfacial hypoplasia, skeletal anomalies, and a variable degree of growth- and mental retardation.

摘要

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本文引用的文献

1
The occurrence of congenital keratoconus posticus circumscriptus in two siblings presenting a previously unrecognized syndrome.
Am J Ophthalmol. 1961 Jul;52:53-7. doi: 10.1016/0002-9394(61)90451-2.
2
A syndrome characterized by corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation.
J Pediatr. 1966 Oct;69(4):624-9. doi: 10.1016/s0022-3476(66)80050-1.
3
A new oculocerebral syndrome with hypopigmentation.
J Pediatr. 1967 Mar;70(3):398-406. doi: 10.1016/s0022-3476(67)80137-9.
4
Familial prevalence of asymmetric septal hypertrophy.
Eur J Cardiol. 1976 Sep;4(3):349-57.
J Med Genet. 1982 Oct;19(5):332-6. doi: 10.1136/jmg.19.5.332.
4
Discrete subaortic stenosis as part of a short stature syndrome.作为身材矮小综合征一部分的离散性主动脉瓣下狭窄。
Hum Genet. 1984;65(4):331-5. doi: 10.1007/BF00291557.
5
Primary mesodermal dysgenesis of the cornea (Peters' anomaly) in two brothers.两兄弟患有原发性角膜中胚层发育异常（彼得斯异常）。
Hum Genet. 1979 Oct 1;51(2):237-40. doi: 10.1007/BF00287184.
5
Discrete subvalvular aortic stenosis in childhood. Study of 51 patients.儿童期离散性瓣下主动脉狭窄。51例患者的研究。
Am J Cardiol. 1976 Jul;38(1):53-61. doi: 10.1016/0002-9149(76)90062-x.