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Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage.

作者信息

Perniola T, Krajewska G, Carnevale F, Lospalluti M

出版信息

J Inherit Metab Dis. 1980;3(2):49-53. doi: 10.1007/BF02312522.

DOI:10.1007/BF02312522
PMID:6777601
Abstract

A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).

摘要

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引用本文的文献

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Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.18号染色体q11.2-q12.2区域上智力发育迟缓综合征伴脱发基因（APMR3）的定位。
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A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.一种新的伴有智力障碍的脱发综合征（APMR2）基因座定位于3号染色体3q26.2-q26.31区域。
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A new alopecia/mental retardation syndrome.

本文引用的文献

1
A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases.一种以外胚层发育不良、多指畸形、软骨发育异常和先天性心脏病为特征的综合征：三例报告。
Arch Dis Child. 1940;15(82):65-84. doi: 10.1136/adc.15.82.65.
2
Familial congenital alopecia, epilepsy, mental retardation with unusual electroencephalograms.家族性先天性脱发、癫痫、伴有异常脑电图的智力迟钝。
Proc R Soc Med. 1962 May;55(5):411-2. doi: 10.1177/003591576205500520.
3
A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.
一种新的脱发/智力发育迟缓综合征。
J Med Genet. 1983 Feb;20(1):64-5. doi: 10.1136/jmg.20.1.64.
4
Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy.获得性脱发、智力发育迟缓、身材矮小、小头畸形和视神经萎缩。
J Med Genet. 1990 Oct;27(10):635-6. doi: 10.1136/jmg.27.10.635.
一种伴性隐性疾病，伴有生长发育迟缓、特殊毛发以及局灶性脑和小脑变性。
Pediatrics. 1962 May;29:764-79.
4
Hereditary ectodermal dysplasia of anhidrotic type. A report of three cases in boys aged 3-4 months.遗传性无汗型外胚层发育不良。3例3 - 4个月龄男婴的报告。
Acta Paediatr (Stockh). 1962 Nov;51:712-20. doi: 10.1111/j.1651-2227.1962.tb06603.x.
5
A new syndrome; dyscephalia with bird face and dental anomalies, nanism, hypotrichosis, cutaneous atrophy, microphthalmia, and congenital cataract.一种新综合征：头颅异常伴鸟脸及牙齿异常、侏儒症、毛发稀少、皮肤萎缩、小眼畸形和先天性白内障。
AMA Arch Ophthalmol. 1958 Nov;60(5):842-62.
6
Hypotrichosis, syndactyly, and retinal degeneration in two siblings.
Acta Derm Venereol. 1956;36(2):96-101.
7
Pili torti and sensory neural hearing loss.
J Pediatr. 1967 Apr;70(4):621-3. doi: 10.1016/s0022-3476(67)80050-7.
8
Menkes' kinky-hair syndrome.门克斯卷发综合征
Lancet. 1972 May 20;1(7760):1100-2. doi: 10.1016/s0140-6736(72)91433-x.
9
Retinal dystrophy combined with alopecia.视网膜营养不良合并脱发。
Acta Ophthalmol (Copenh). 1975 Nov;53(5):781-9. doi: 10.1111/j.1755-3768.1975.tb01194.x.