■Hallermann-Streiff综合征(HSS)是一种罕见的先天性疾病,以畸形为特征,毛发减少症,小眼症,牙齿异常,和皮肤萎缩.由于存在特征性的面部外观,严重的视觉障碍,和/或上呼吸道阻塞,大多数HSS患者在新生儿或生命早期被诊断为先天性异常。我们报告了一例HSS病例,该病例在患者生命的第七个十年中首次被发现。
■一名68岁的妇女因双眼视力下降(OU)而到我们部门就诊。她的眼部病史包括左眼“眼部注射”(OS);OU激光虹膜切除术,白内障手术OS,并去除角膜混浊OU;她没有明显的全身病史。在初次访问我们部门时,她的右眼最佳矫正视力为0.5(OD),OS为0.1,远视矫正为+4.0屈光度OU,OU钙化导致的角膜混浊,观察到浅前房和虹膜接触OD。在手术干预期间OD,外科医生认出了蓝色巩膜,医生最初怀疑是潜在的全身性畸形。虽然温和,她的鼻子像喙一样细,下巴在后退。结合眼部特征,成比例的身材矮小,和特征性的面部外观,她被诊断出患有HSS。
■HSS患者没有临床显著的美容,视觉,生命早期的呼吸问题可能不会被认为患有HSS。角膜混浊的存在,短轴向长度,眼科医生认可的蓝色巩膜可以正确诊断这种先天性疾病。
UNASSIGNED: Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, hypotrichosis, microphthalmia, dental anomalies, and cutaneous atrophy. Because of the presence of a characteristic facial appearance, severe visual disturbance, and/or upper airway obstruction, most patients with HSS are diagnosed as having a congenital anomaly as a newborn or early in life. We report a case of HSS that was first recognized when the patient was in her seventh decade of life.
UNASSIGNED: A 68-year-old woman presented to our department for decreased vision in both eyes (OU). Her ocular medical history included \"ocular injections\" in her left eye (OS); laser iridotomies OU, cataract surgery OS, and removal of corneal opacity OU; she did not have a remarkable systemic medical history. At the initial visit to our department, her best-corrected visual acuity was 0.5 in her right eye (OD) and 0.1 OS with +4.0-diopter hyperopic correction OU, corneal opacity due to calcification OU, a shallow anterior chamber and iridotrabecular contact OD were observed. During the surgical intervention OD, the surgeon recognized a \"blue sclera,\" and the physicians initially suspected an underlying systemic malformation. Although mild, she presented with a thin beak-like nose and receding chin. In combination with the ocular features, the proportionate short stature, and a characteristic facial appearance, she was diagnosed with HSS.
UNASSIGNED: Patients with HSS who had no clinically significant cosmetic, visual, and respiratory problems early in life may not be recognized as having HSS. The presence of corneal opacity, short axial length, and a blue sclera recognized by ophthalmologists can lead to the correct diagnosis of this congenital disorder.