Coto-Puckett Wendy L, Gilbert-Barness Enid, Steelman Charlotte K, Stuart Tami, Robinson Haynes B, Shehata Bahig M
Department of Neonatology, Emory University and Children's Healthcare of Atlanta, Georgia, USA.
Fetal Pediatr Pathol. 2010 Jan;29(2):108-19. doi: 10.3109/15513811003620914.
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by severe intra-uterine growth restriction, extreme microcephaly, marked edema with skin restriction, ichthyosis, craniofacial anomalies, limb deformities, and a spectrum of central nervous system malformations. Less than 70 cases have been described since the first report in 1971. To this day the etiology and genetic basis remains unknown. Consanguinity has been reported. Some authors have postulated the syndrome to be a form of neuro-ectodermal dysplasia, while others suggest that it is a malformation syndrome secondary to severe skin restriction. Although the outcome of this syndrome is lethal, a single case of longer survival (6 months) has been reported. The majority of cases are stillborn or die shortly after birth. Thus, it is clear that Neu-Laxova exhibits a spectrum of disease, with varying degrees of phenotypic expression. We are presenting three new cases of Neu-Laxova syndrome; two were stillbirths and one lived for eleven weeks. Our microscopic and post-mortem findings in these three cases display the vast spectrum of this rare syndrome.
Neu-Laxova综合征是一种罕见的常染色体隐性疾病，其特征为严重的宫内生长受限、极度小头畸形、伴有皮肤紧绷的显著水肿、鱼鳞病、颅面畸形、肢体畸形以及一系列中枢神经系统畸形。自1971年首次报告以来，所描述的病例不足70例。迄今为止，其病因和遗传基础仍不清楚。有血缘关系的情况已有报告。一些作者推测该综合征是神经外胚层发育不良的一种形式，而另一些人则认为它是继发于严重皮肤紧绷的一种畸形综合征。尽管该综合征的结局是致命的，但已有一例存活时间较长（6个月）的报告。大多数病例为死产或出生后不久死亡。因此，很明显Neu-Laxova综合征表现出一系列疾病，具有不同程度的表型表达。我们报告三例新的Neu-Laxova综合征病例；两例为死产，一例存活了十一周。我们对这三例病例的显微镜检查和尸检结果展示了这种罕见综合征的广泛表现。
