Lilius G P
Department of Surgery, Helsinki University Central Hospital, Finland.
Scand J Plast Reconstr Surg Hand Surg. 1992;26(2):185-96. doi: 10.3109/02844319209016011.
Probands with clefts born during an 11-year period, 1975-85, were evaluated; 1,586 probands were found of whom 345 (171 males and 174 females, 21.8%) had an associated anomaly. More male patients had cleft lips, with or without cleft palate (CL(P)) and more female patients had cleft palates (CP). The anomalies were subdivided according to anatomical site, and the biggest category was that of the extremities (29.7%) followed by cardiovascular (14.8%) and other facial anomalies (13.0%). The smallest category was chromosomal anomalies (2.7%) followed by miscellaneous anomalies (4.1%). A total of 560 malformations were found. Most anomalies per proband with clefts were found in the bilateral cleft lip and palate subgroup (mean 1.04). The lowest (0.14) was found in the subgroup with the least severe cleft deformity, the cleft lip with or without cleft alveolus. In the CP groups a similar trend was found with 0.21 in the subgroup of submucous cleft palate and 0.33 for the subgroup cleft palate, submucous clefts excluded. A total of 133 probands with 39 different recognised syndromes was delineated, 25 in the CL(P) group and 108 in the CP group (8.4% of the total 1,586 patients with clefts). There was no difference in parental age between probands with an associated anomaly and those with a solitary cleft. Anomalies were more than three times as frequent among probands with clefts as among the general population.
对1975年至1985年这11年间出生的唇腭裂先证者进行了评估;共发现1586例先证者,其中345例(171例男性和174例女性,占21.8%)伴有相关异常。唇裂(无论有无腭裂,即CL(P))患者中男性更多,腭裂(CP)患者中女性更多。这些异常根据解剖部位进行细分,最大的类别是四肢异常(29.7%),其次是心血管异常(14.8%)和其他面部异常(13.0%)。最小的类别是染色体异常(2.7%),其次是杂项异常(4.1%)。共发现560处畸形。大多数伴有唇腭裂的先证者的异常出现在双侧唇腭裂亚组(平均1.04)。在畸形程度最轻的唇裂(无论有无牙槽突裂)亚组中发现的异常最少(0.14)。在CP组中也发现了类似的趋势,黏膜下腭裂亚组为0.21,排除黏膜下腭裂的腭裂亚组为0.33。共确定了133例患有39种不同公认综合征的先证者,CL(P)组中有25例,CP组中有108例(占1586例唇腭裂患者总数的8.4%)。伴有相关异常的先证者与单纯唇腭裂先证者的父母年龄没有差异。唇腭裂先证者中异常的发生率是普通人群的三倍多。