Martínez-Frías M L, Bermejo E, Félix V, Jiménez N, Gómez-Ullate J, López J A, Aparicio P, Ayala A, Gairi J M, Galán E, Suárez M E, Peñas A, de Tapia J M, Nieto C, de la Serna E
ECEMC y Departamento de Farmacología, Facultad de Medicina Universidad Complutense, Madrid.
An Esp Pediatr. 1998 Mar;48(3):293-8.
We present the study of the clinical and epidemiological characteristics of Brachmann-de Lange syndrome in our population.
In this study we present the analysis of 13 cases of Brachmann-de Lange syndrome identified among 24,696 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1996.
The minimum estimation of the prevalence in our population is 0.97 per 100,000 live births. We have epidemiologically confirmed the presence of intrauterine growth retardation and have observed that parental ages tend to be relatively young. We have observed a wide range of clinical expression of this syndrome. One hundred percent of our cases have limb reduction defects, followed in frequency by craniofacial alterations (84.62%), abnormal hair distribution (76.92%) and genital defects (69.23%). Upper limbs are predominantly affected and one case of diaphragmatic hernia is worth mentioning. We underline the importance of the differential diagnosis with Fryns'syndrome.
The cases studied correspond to the most severe form of the syndrome, reason for which the prevalence is a minimal estimate. However, the mild forms of the syndrome are more frequent and it is important to consider that the face, especially the form of the eyebrow, could be a good guide for the diagnosis of mild forms of the syndrome.
我们介绍了在我们的人群中对布腊克曼-德朗热综合征的临床和流行病学特征的研究。
在本研究中，我们分析了1976年4月至1996年6月期间西班牙先天性畸形协作研究（ECEMC）登记的24,696例先天性缺陷婴儿中确诊的13例布腊克曼-德朗热综合征病例。
我们人群中该综合征患病率的最低估计为每10万活产儿0.97例。我们从流行病学角度证实了宫内生长迟缓的存在，并观察到父母年龄往往相对年轻。我们观察到该综合征有广泛的临床表型。我们的病例中有100%存在肢体减少缺陷，其次常见的是颅面改变（84.62%）、毛发分布异常（76.92%）和生殖器缺陷（69.23%）。上肢受累为主，还有1例膈疝值得一提。我们强调与弗林斯综合征进行鉴别诊断的重要性。
所研究的病例对应于该综合征最严重的形式，因此患病率只是最低估计。然而，该综合征的轻型更为常见，重要的是要认识到面部，尤其是眉毛的形态，可能是诊断轻型综合征的良好线索。
