Ahn Joe K, Lev Dorit, Leshinsky-Silver Esther, Ginzberg Mira, Lerman-Sagie Tally
Mitochondrial Disease Clinic, Metabolic-Neurogenetic Service, Wolfson Medical Center, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Am J Med Genet A. 2003 Jun 15;119A(3):352-5. doi: 10.1002/ajmg.a.20124.
A son and daughter of consanguineous Ashkenazi Jewish parents presented with phenotypic features that are typically seen in Zellweger syndrome: high forehead, broad nasal bridge, epicanthal fold, upslanting palpebral fissures, and micrognathia. In addition to the physical anomalies, they also have severe psychomotor retardation and hypotonia. However, results of peroxisomal studies including very long chain fatty acids and plasmalogen functions, were normal. There was partial deficiency of respiratory chain complexes. We suggest that this is a new autosomal recessive syndrome that could be due to a nuclear-encoded mitochondrial defect.
额头高、鼻梁宽、内眦赘皮、睑裂向上倾斜以及小颌畸形。除了身体异常外，他们还存在严重的精神运动发育迟缓及肌张力减退。然而，包括极长链脂肪酸和缩醛磷脂功能在内的过氧化物酶体研究结果正常。呼吸链复合物存在部分缺陷。我们认为这是一种新的常染色体隐性综合征，可能是由于核编码的线粒体缺陷所致。
