Ozcan Deren, Derbent Murat, Seçkin Deniz, Bikmaz Yunus Emre, Ağildere Muhteşem, De Sandre-Giovannoli Annachiara, Lévy Nicolas, Gürakan Berkan
Department of Dermatology, Başkent University Faculty of Medicine, Ankara, Turkey.
Department of Pediatrics, Başkent University Faculty of Medicine, Ankara, Turkey.
Ann Dermatol. 2013 Nov;25(4):483-8. doi: 10.5021/ad.2013.25.4.483. Epub 2013 Nov 30.
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.
纽-拉索瓦综合征是一种罕见的致死性常染色体隐性疾病，其特征为宫内生长迟缓、中枢神经系统异常、皮肤表现（如鱼鳞病、水肿、胶样婴儿和丑角样胎儿）、面部畸形特征、肢体异常和生殖器发育不全。尽管这通常是一种致死性疾病，但也有报道称此类患者存活超过6个月和10个月的病例。在此，我们描述一名8岁男孩，他出生时伴有胶样膜、面部畸形特征、肢体异常、生殖器发育不全和巨脑回。在8年的随访过程中，他没有重大健康问题，只是有轻度智力/运动发育迟缓、鱼鳞病、面部畸形特征和肢体异常。基于这些特征，我们认为，由于纽-拉索瓦综合征表现为一种异质性表型，我们的病例可能是该综合征的一种较轻型变体或一种新的遗传实体。
