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首页> 外文期刊>Annals of Dermatology >A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?
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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?

机译：患有面部畸形，肢体异常，单发性生殖器和生殖器发育不全的火棉婴儿：轻度的新拉克索氏综合症还是新的实体？

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摘要

Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10 months of age have been reported. Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. He had no major health problems over the course of 8 years of follow-up, except for mild mental/motor retardation, ichthyosis, facial dysmorphic features and limb anomalies. Based on these features, we suggest that because Neu-Laxova syndrome represents a heterogeneous phenotype, our case may be a milder variant of this syndrome or a new genetic entity.
机译：Neu-Laxova综合征是一种罕见的致死性常染色体隐性遗传病，其特征是宫内发育迟缓，中枢神经系统异常，皮肤病如鱼鳞病，水肿，胶着婴儿和丑角胎儿，面部畸形，肢体异常和生殖器发育不良。尽管通常是致死性疾病，但已报道了此类患者的年龄超过6个月和10个月。在这里，我们描述了一个8岁的男孩，他出生时具有胶棉膜，面部畸形特征，肢体异常，生殖器发育不全和早泄。除了轻度的精神/运动障碍，鱼鳞病，面部畸形和肢体异常外，他在8年的随访过程中没有出现重大健康问题。基于这些特征，我们建议由于Neu-Laxova综合征代表异质表型，因此我们的病例可能是该综合征的较温和变异或新的遗传实体。

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