Mégarbané A
Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.
Clin Dysmorphol. 2001 Apr;10(2):129-33. doi: 10.1097/00019605-200104000-00010.
Two sisters are reported with up-slanting palpebral fissures, hypertelorism, ptosis, a broad, bifid nasal tip, a high-arched palate, mental retardation, abnormal EEG and hand malformations in one of the patients. The girls' parents originate from the same village. Although the findings resemble the recently defined neurofaciodigitorenal syndrome, some findings suggest that this is a newly recognized syndrome.
据报道,有两姐妹存在睑裂向上倾斜、眼距过宽、上睑下垂、鼻尖宽阔且呈双峰状、高拱腭、智力发育迟缓、一名患者脑电图异常以及手部畸形等症状。这两个女孩的父母来自同一个村庄。尽管这些表现类似于最近定义的神经面指肾综合征,但一些表现表明这是一种新发现的综合征。