Sachdev Manav, Rastogi Anju, Singh Ankur, Kumar Kamlesh, Kapoor Seema, Bansal Yuvika, Goel Shilpa
Department of Ophthalmology, Maulana Azad Medical College, New Delhi, India.
Ophthalmic Genet. 2013 Mar-Jun;34(1-2):65-8. doi: 10.3109/13816810.2012.695423. Epub 2012 Jun 14.
We describe two siblings with epiphora, telecanthus, expressionless face, thick facial skin, bulky nose and profound sensorineural hearing loss. Constellation of these features presented a phenotypic overlap with Blepharo-naso-facial syndrome (BNFS) and Nablus mask-like syndrome (NMLS). They in addition had posterior helical pits. The molecular basis of NMLS is known, while BNFS remains an elusive disorder. We report the first Indian family with features having significant overlap between the two but we attempt to summarize the frequency of reported features and bring out the most consistent features for these two syndromes for the treating clinician.
我们描述了两名患有泪溢、内眦距增宽、表情淡漠、面部皮肤增厚、鼻子肥大以及重度感音神经性听力损失的兄弟姐妹。这些特征组合与睑鼻面部综合征（BNFS）和纳布卢斯面具样综合征（NMLS）存在表型重叠。他们还伴有耳轮后沟。NMLS的分子基础已为人所知，而BNFS仍是一种难以捉摸的疾病。我们报告了首个具有这两种综合征显著重叠特征的印度家族，同时试图总结所报告特征的出现频率，并为临床治疗医生梳理出这两种综合征最一致的特征。
