Department of Clinical Genetics, Christian Medical College, Vellore, India.
Department of Genetics, Deenanath Mangeshkar Hospital & Research Center, Pune, India.
Am J Med Genet A. 2021 May;185(5):1606-1609. doi: 10.1002/ajmg.a.62118. Epub 2021 Feb 11.
Alazami syndrome (ALAZS) (MIM 615071) is a rare autosomal recessive disorder characterized by short stature, dysmorphic facial features, developmental delay, and impaired intellect. It was first reported in a Saudi Arabian family in 2012. Three Indian patients affected with ALAZS, one boy aged 13 years and other two sisters in their 40s are presented. These patients had few unreported dysmorphic facial features: high arched eyebrows and dental overcrowding. No microcephaly was noted in the sisters. One of the sisters did not have short stature. The boy also presented with unilateral buphthalmos of left eye. All three of them have been identified to harbor novel variants in LARP7.
阿拉扎米综合征（ALAZS）（MIM 615071）是一种罕见的常染色体隐性疾病，其特征为身材矮小、面部畸形、发育迟缓以及智力受损。它于 2012 年首次在一个沙特阿拉伯家族中报道。本文报告了 3 例印度患者，其中 1 例为 13 岁男孩，另外 2 例为 40 多岁的姐妹。这些患者存在一些未报道的面部畸形特征：高拱形眉毛和牙齿拥挤。姐妹俩均无脑小畸形。其中一位姐妹身材不矮小。男孩还患有左眼单侧青光眼。他们三人都被鉴定出 LARP7 中存在新的变异。
