Department of Translational Medical Sciences, Federico II University, Naples, Italy.
Am J Med Genet A. 2014 Mar;164A(3):753-9. doi: 10.1002/ajmg.a.36326. Epub 2013 Dec 19.
Langer-Giedion syndrome (LGS) is caused by a deletion of chromosome 8q23.3-q24.11. The LGS clinical spectrum includes intellectual disability (ID), short stature, microcephaly, facial dysmorphisms, exostoses. We describe a 4-year-old girl with ID, short stature, microcephaly, distinctive facial phenotype, skeletal signs (exostoses on the left fibula, coccyx agenesis, stubby and dysmorphic sphenoid bone, osteoporosis), central nervous system malformations (hypoplastic and dysmorphic corpus callosum and septum pellucidum), pituitary gland hypoplasia and hyperreninemia. Array-CGH revealed complex chromosomal rearrangements. A diagnosis of LGS was confirmed by the detection of a 8q23.3-q24.1 deletion. Associated chromosomal abnormalities were a 21q22.1 deletion and a balanced reciprocal translocation t(2;11)(p24;p15) de novo, confirmed by FISH analysis. We document the patient's atypical findings, never described in LGS patients, in order to update the genotype-phenotype correlation. We speculate that the disruption of regulatory elements mapping upstream CYP11B2 involved in the deleted region could cause hyperreninemia.
朗格-吉伊登综合征（LGS）是由 8q23.3-q24.11 染色体缺失引起的。LGS 的临床谱包括智力障碍（ID）、身材矮小、小头畸形、面部畸形、外生骨疣。我们描述了一名 4 岁女孩，具有 ID、身材矮小、小头畸形、独特的面部表型、骨骼征象（左侧腓骨外生骨疣、尾骨发育不全、粗短和畸形蝶骨、骨质疏松症）、中枢神经系统畸形（胼胝体和透明隔发育不良和畸形）、垂体发育不全和高肾素血症。阵列-CGH 显示复杂的染色体重排。通过检测到 8q23.3-q24.1 缺失，确认了 LGS 的诊断。通过 FISH 分析证实了相关的染色体异常包括 21q22.1 缺失和新发生的平衡相互易位 t(2;11)(p24;p15)。我们记录了患者的非典型发现，这些发现从未在 LGS 患者中描述过，以便更新基因型-表型相关性。我们推测，缺失区域中涉及 CYP11B2 的上游调控元件的破坏可能导致高肾素血症。
