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一例新的纽-拉索瓦综合征病例：患有面部畸形、关节挛缩、鱼鳞病和小头畸形的婴儿。

A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia.

作者信息

Barekatain Behzad, Sadeghnia Alireza, Rouhani Elham, Soofi Ghazaleh Jamalipoor

机构信息

Department of Neonatology, Isfahan University of Medical Sciences, Isfahan, Iran.

Department of Pathology, Isfahan University of Medical Sciences, Isfahan, Iran.

出版信息

Adv Biomed Res. 2018 Apr 24;7:68. doi: 10.4103/abr.abr_143_17. eCollection 2018.

DOI:10.4103/abr.abr_143_17
PMID:29862217
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5952546/
Abstract

Neu-Laxova syndrome (NLS) is an autosomal recessive disorder characterized by central nervous system anomalies, facial dysmorphic features, anomalies of limb and genitalia, intrauterine growth retardation, skin disorders, and other congenital abnormalities. In this article, we present a newborn infant who was born with facial dysmorphic features, flat nose, ichthyosis, rocker bottom feet, and fixed flexion contractures. We believe that these clinical findings in this patient are consistent with features of NLS.

摘要

纽-拉索瓦综合征（NLS）是一种常染色体隐性疾病，其特征为中枢神经系统异常、面部畸形特征、肢体和生殖器异常、宫内生长迟缓、皮肤疾病以及其他先天性异常。在本文中，我们报告了一名患有面部畸形特征、扁平鼻、鱼鳞病、摇椅底足和固定性屈曲挛缩的新生儿。我们认为该患者的这些临床表现与NLS的特征相符。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/079d/5952546/efbf4932533e/ABR-7-68-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/079d/5952546/728c70637ad4/ABR-7-68-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/079d/5952546/52b73de72982/ABR-7-68-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/079d/5952546/ab9fe73751e2/ABR-7-68-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/079d/5952546/efbf4932533e/ABR-7-68-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/079d/5952546/728c70637ad4/ABR-7-68-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/079d/5952546/52b73de72982/ABR-7-68-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/079d/5952546/ab9fe73751e2/ABR-7-68-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/079d/5952546/efbf4932533e/ABR-7-68-g004.jpg

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A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia.一例新的纽-拉索瓦综合征病例：患有面部畸形、关节挛缩、鱼鳞病和小头畸形的婴儿。
Adv Biomed Res. 2018 Apr 24;7:68. doi: 10.4103/abr.abr_143_17. eCollection 2018.
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本文引用的文献

1
Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.严重Neu-Laxova综合征中PHGDH基因过早终止密码子突变的鉴定——表型变异性的证据
Am J Med Genet A. 2015 Jun;167(6):1323-9. doi: 10.1002/ajmg.a.36930. Epub 2015 Apr 25.
2
Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.Neu-Laxova 综合征，一种丝氨酸代谢先天性错误，是由 PHGDH 的突变引起的。
Am J Hum Genet. 2014 Jun 5;94(6):898-904. doi: 10.1016/j.ajhg.2014.04.015. Epub 2014 May 15.
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A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?
一名患有面部畸形、肢体异常、巨脑回和生殖器发育不全的火棉胶婴儿：是轻度形式的诺伊-拉索娃综合征还是一种新的病症？
Ann Dermatol. 2013 Nov;25(4):483-8. doi: 10.5021/ad.2013.25.4.483. Epub 2013 Nov 30.
4
Prenatal sonographic diagnosis of Neu-Laxova syndrome.
J Clin Ultrasound. 2001 Nov-Dec;29(9):531-4. doi: 10.1002/jcu.10019.
5
Extreme microcephaly, severe growth and mental retardation, flexion contractures, and ichthyotic skin in two brothers: a new syndrome or mild form of Neu-Laxova syndrome?两兄弟出现极度小头畸形、严重生长发育迟缓和智力障碍、屈曲挛缩及鱼鳞病样皮肤：一种新综合征还是Neu-Laxova综合征的轻型？
Clin Dysmorphol. 1997 Oct;6(4):323-8. doi: 10.1097/00019605-199710000-00004.
6
Further comments on the Neu-Laxova syndrome.关于纽-拉索瓦综合征的进一步评论。
Am J Med Genet. 1982 Dec;13(4):441-4. doi: 10.1002/ajmg.1320130414.
7
A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings.三例同胞患有一种伴有多种先天性异常的致命性小头畸形综合征。
Pediatrics. 1971 Mar;47(3):610-2.
8
A further example of a lethal autosomal recessive condition in sibs.同胞中致死性常染色体隐性疾病的另一个例子。
J Ment Defic Res. 1972 Jun;16(2):139-43. doi: 10.1111/j.1365-2788.1972.tb01585.x.
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Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations.
Am J Med Genet. 1992 Jun 1;43(3):602-5. doi: 10.1002/ajmg.1320430319.
10
Brief clinical observations: the Neu-Laxova syndrome--a distinct entity.简要临床观察：Neu-Laxova综合征——一种独特的病症。
Am J Med Genet. 1979;3(3):261-7. doi: 10.1002/ajmg.1320030304.