Wright Emma Burkitt, Donnai Dian, Johnson Diana, Clayton-Smith Jill
Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester Clinical Genetics, Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, Western Bank, Sheffield, UK.
Clin Dysmorphol. 2011 Jan;20(1):15-20. doi: 10.1097/MCD.0b013e32833e8f1e.
Microdeletion of 17q21.31 causes a recurrent recognizable dysmorphic syndrome. A further four patients with 17q21.31 microdeletions are reported here in whom an earlier diagnosis of cardio-facio-cutaneous syndrome was suggested. These patients have significant similarities of facial gestalt to earlier reported 17q21.31 microdeletion patients, but a striking feature that has not been emphasized previously is the large number of naevi and other pigmentary skin abnormalities that may be present. These features, together with a coarse facial appearance, relative macrocephaly and significant learning disabilities, were what had led to the earlier diagnostic suggestion of cardio-facio-cutaneous syndrome in each of these four cases.
17q21.31微缺失会导致一种复发性可识别的畸形综合征。本文报告了另外4例17q21.31微缺失患者，他们之前曾被诊断为心面皮肤综合征。这些患者的面部形态与先前报道的17q21.31微缺失患者有显著相似之处，但一个此前未被强调的显著特征是可能存在大量痣和其他色素性皮肤异常。这些特征，连同面部外观粗糙、相对巨头畸形和显著的学习障碍，导致了这4例患者之前均被诊断为心面皮肤综合征。
