Lambert D M, Watters G, Andermann F, Der Kaloustian V M
F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Department of Pediatrics, Montreal Children's Hospital, Québec, Canada.
Am J Med Genet. 1999 Sep 17;86(3):208-14. doi: 10.1002/(sici)1096-8628(19990917)86:3<208::aid-ajmg3>3.0.co;2-h.
This report describes two unrelated patients with obesity, mental retardation, body asymmetry, and muscle weakness. Several obesity syndromes with common characteristics have been described. Findings in our patients, in addition to those of the previously reported cases, include body asymmetry, characteristic physiognomy, lordosis, and typical anomalies of hands and feet. These physical manifestations correspond to the Camera-Marugo-Cohen syndrome. Our patients represent the second and third cases of this condition.
本报告描述了两名患有肥胖症、智力迟钝、身体不对称和肌肉无力的非亲缘关系患者。已经描述了几种具有共同特征的肥胖综合征。除了先前报道病例的特征外，我们患者的表现还包括身体不对称、特征性相貌、脊柱前凸以及典型的手足异常。这些身体表现符合卡梅拉-马鲁戈-科恩综合征。我们的患者代表了该病症的第二和第三例病例。
