Soekarman D, Fryns J P, Casaer P, Van Den Berghe H
Center for Human Genetics, University Hospital, Leuven, Belgium.
Genet Couns. 1991;2(3):157-62.
We report a child with nevoid basal-cell carcinoma syndrome (NBCCS) who showed an enlarged head circumference and cleft lip/cleft palate as sole signs of this syndrome at birth. Careful follow up and re-evaluation of this patient enabled us to diagnose the syndrome. Moreover, inspection of her father and sister indicated that they were also affected. An updated review of reported cases indicates that facial cleft occurs in approximately 5% of NBCCS patients. Various aspects of the disease and general measures for its monitoring and treatment are briefly discussed.
我们报告了一名患有痣样基底细胞癌综合征（NBCCS）的儿童，该患儿出生时头围增大和唇腭裂是该综合征仅有的体征。对该患者进行仔细的随访和重新评估后，我们得以诊断出该综合征。此外，对其父亲和姐姐的检查表明他们也受到了影响。对已报道病例的最新综述表明，面部裂隙在大约5%的NBCCS患者中出现。本文简要讨论了该疾病的各个方面及其监测和治疗的一般措施。
