González de Dios J, Martínez Frías M L, Egües Jimeno J, Gairi Tahull J M, Gómez Sabrido F, Morales Fernández M C, Paisán Grisolía L, Pardo Romero M, Medina Rams M
Departamento de Pediatría, Hospital Universitario San Juan, Universidad Miguel Hernández, Alicante.
An Esp Pediatr. 1999 Oct;51(4):389-96.
Steinert's congenital myotonic dystrophy (CMD) is a systemic disease with autosomal mother-to-child transmission and characterized by generalized hypotonia, areflexia, facial diplegia, respiratory and alimentary diseases, arthrogryposis, polyhydramnios, etc. We present the study of the clinical and epidemiological characteristics of Steinert's CMD in our population, with special attention to its dysmorphological features.
In this study we present the analysis of 12 cases of Steinert's CMD identified among 26,956 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and March 1998.
The minimum estimation of the prevalence in our population is 0.08 per 10,000 live births. We have epidemiologically observed in newborns with Steinert's CMD the presence of a statistically significant difference in the following variables: lower gestational age and birth weight, more polyhydramnios, more feet presentations and Cesarean sections, and a higher frequency of similar congenital defects in first degree relatives. The congenital defects most frequently associated to our population of CMD are located in the extremities, the head and face.
It is important to recognize the congenital defects associated with neuromuscular disorders in the neonatal period, and particularly, the wide spectrum of Steinert's CMD that results in a fetal hypokinesia deformation sequence.
斯坦纳特先天性肌强直性营养不良（CMD）是一种常染色体母系遗传的全身性疾病，其特征为全身肌张力减退、反射消失、面瘫、呼吸及消化系统疾病、关节挛缩、羊水过多等。我们对本群体中斯坦纳特CMD的临床和流行病学特征进行了研究，特别关注其畸形特征。
在本研究中，我们对1976年4月至1998年3月间西班牙先天性畸形协作研究（ECEMC）登记的26956例先天性缺陷婴儿中确诊的12例斯坦纳特CMD病例进行了分析。
我们群体中该病患病率的最低估计值为每10000例活产中有0.08例。我们在患有斯坦纳特CMD的新生儿中进行了流行病学观察，发现以下变量存在统计学显著差异：孕周和出生体重较低、羊水过多情况更多、足先露和剖宫产更多，以及一级亲属中类似先天性缺陷的发生率更高。与我们群体中的CMD最常相关的先天性缺陷位于四肢、头部和面部。
在新生儿期识别与神经肌肉疾病相关的先天性缺陷非常重要，特别是斯坦纳特CMD导致胎儿运动减少变形序列的广泛表现。
