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Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs.

作者信息

Young I D, Macrae W G, Hughes H E, Crawford J S

出版信息

J Med Genet. 1982 Oct;19(5):332-6. doi: 10.1136/jmg.19.5.332.

DOI:10.1136/jmg.19.5.332
PMID:7143385
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1048916/
Abstract

This paper describes two sibs in each of whom Keratoconus posticus circumscriptus is associated with multiple abnormalities. These include short stature, mental retardation, cleft lip and palate, and vertebral anomalies. The authors have been unable to trace any former reports of an identical condition and suggest that the findings in these children may represent a previously unrecognised malformation syndrome showing probable autosomal recessive inheritance.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/901599398cb0/jmedgene00115-0017-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/9c356a5c74d6/jmedgene00115-0014-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/e347f2516185/jmedgene00115-0015-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/fd200540b225/jmedgene00115-0015-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/83934e0a327e/jmedgene00115-0015-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/edd45e22c3b5/jmedgene00115-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/286ec32c6ed7/jmedgene00115-0016-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/8a501e062205/jmedgene00115-0017-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/901599398cb0/jmedgene00115-0017-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/9c356a5c74d6/jmedgene00115-0014-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/e347f2516185/jmedgene00115-0015-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/fd200540b225/jmedgene00115-0015-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/83934e0a327e/jmedgene00115-0015-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/edd45e22c3b5/jmedgene00115-0016-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/286ec32c6ed7/jmedgene00115-0016-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/8a501e062205/jmedgene00115-0017-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8408/1048916/901599398cb0/jmedgene00115-0017-b.jpg

相似文献

1
Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs.
J Med Genet. 1982 Oct;19(5):332-6. doi: 10.1136/jmg.19.5.332.
2
Two sibs with Malpuech syndrome.两名患有马尔普克综合征的兄弟姐妹。
Am J Med Genet. 1999 Sep 17;86(3):294-9. doi: 10.1002/(sici)1096-8628(19990917)86:3<294::aid-ajmg20>3.0.co;2-2.
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4
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Clin Genet. 1976 Jan;9(1):35-42. doi: 10.1111/j.1399-0004.1976.tb01547.x.
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A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.一种此前未被描述的常染色体隐性多发性先天性异常/智力发育迟缓（MCA/MR）综合征，伴有生长发育迟缓、唇腭裂和泌尿生殖系统异常。
Am J Med Genet. 1983 Dec;16(4):475-80. doi: 10.1002/ajmg.1320160405.
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An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation.一种常染色体显性遗传综合征，特征为葡萄膜缺损、唇腭裂和智力发育迟缓。
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A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation.一名患有双侧完全性唇腭裂和严重智力障碍的女孩，其16p13.3区域存在鲁宾斯坦-泰比综合征相关区域的微重复。
Clin Dysmorphol. 2012 Oct;21(4):204-207. doi: 10.1097/MCD.0b013e3283554d15.

本文引用的文献

1
Postnatal partial spontaneous correction of a severe congenital anomaly of the anterior segment of an eye.
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2
MICROPHTHALMOS, CORNEAL OPACITY, MENTAL RETARDATION, AND SPASTIC CEREBRAL PALSY; AN OCULOCEREBRAL SYNDROME.小眼症、角膜混浊、智力发育迟缓与痉挛性脑瘫；一种眼脑综合征。
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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.
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Posterior conical cornea.
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Keratoconus posticus circumscriptus with indentation of the lens.局限性后圆锥角膜伴晶状体压痕
Br J Ophthalmol. 1967 Jul;51(7):486-8. doi: 10.1136/bjo.51.7.486.
6
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.
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A new oculocerebral syndrome with hypopigmentation.
J Pediatr. 1967 Mar;70(3):398-406. doi: 10.1016/s0022-3476(67)80137-9.
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Corneal opacity, microphthalmia, mental retardation, microcephaly and generalized muscular spasticity associated with hyperglycinemia.
Clin Genet. 1974 Jan;5(1):36-9. doi: 10.1111/j.1399-0004.1974.tb01656.x.
9
Congenital corneal leukomas. 1. Central defect in Descemet's membrane.先天性角膜白斑。1. 后弹力层中央缺损。
Am J Ophthalmol. 1974 Jan;77(1):80-6.
10
Dysgenesis mesodermalis of the cornea (Peters' anomaly) associated with cleft lip and palate.
Ann Ophthalmol. 1975 Jun;7(6):841-2.