Bermejo Sánchez E, Ayala Garcés A, Félix Rodríguez V, Martín Bermejo M, Blanco García M, Egüés Jimeno J, Huertas Camacho H, Jiménez Muñoz-Delgado N, Paisán Grisolía L, Martínez-Frías M L
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid.
An Esp Pediatr. 1996 Sep;45(3):269-75.
The objective of this study was to perform an epidemiological analysis of the frequency of anophthalmia/microphthalmia (A/M) in syndromes identified in newborn infants in Spain.
Data of the Spanish Collaborative Study of Congenital Malformations during the period of 1976-1994, corresponding to more than 1,200,000 births, was analyzed. Among these, 86 newborn infants with A/M presented some of the recognized syndromes.
There is a wide etiological heterogeneity among the syndromes with this ocular defect, with chromosomal syndromes being the most frequent (67.9% of total syndromes with A/M), followed by monogenic syndromes (19.1%), environmental (9.5%) and those of unknown etiology (3.6%).
Some guidelines when a baby is born with A/M are derived from this study. First, given the tendency of the defect to present together with other anomalies, it is advisable to perform a detailed study to rule out or to confirm the existence of other defects. Adequate samples should be taken (even in stillborn infants) for cytogenetic study. Examine carefully the prenatal history, looking for chronic diseases, infectious processes or exposure to teratogens. Depending on the baby's survival, follow-up of the psychomotor development should be made. All of these aspects are always important in malformed babies, but especially in infants with A/M given the tendency of the defect to present in syndromes as the etiologic diagnosis determines the counselling regarding the risk of recurrence, detection of carriers in some cases and possible prenatal diagnosis.
本研究的目的是对西班牙新生儿中已识别综合征的无眼/小眼（A/M）发生率进行流行病学分析。
分析了1976 - 1994年期间西班牙先天性畸形协作研究的数据，这些数据对应超过120万例出生情况。其中，86例患有A/M的新生儿表现出一些已确认的综合征。
患有这种眼部缺陷的综合征存在广泛的病因异质性，染色体综合征最为常见（占A/M综合征总数的67.9%），其次是单基因综合征（19.1%）、环境因素导致的综合征（9.5%）以及病因不明的综合征（3.6%）。
本研究得出了一些关于患有A/M的婴儿的指导原则。首先，鉴于该缺陷往往与其他异常同时出现，建议进行详细检查以排除或确认其他缺陷的存在。应采集足够的样本（即使是死产婴儿）进行细胞遗传学研究。仔细检查产前病史，寻找慢性疾病、感染过程或接触致畸物的情况。根据婴儿的存活情况，应对其精神运动发育进行随访。所有这些方面对畸形婴儿都很重要，但对于患有A/M的婴儿尤为重要，因为该缺陷在综合征中的出现倾向使得病因诊断决定了关于复发风险的咨询、某些情况下携带者的检测以及可能的产前诊断。
