PDF(Pubmed)
Abstract：
Coffin-Siris syndrome (CSS) is a rare genetic disorder caused by the haploinsufficiency of one of the various genes that are part of the Brahma/BRG1-associated factor (BAF) complex. The BAF complex is one of the chromatin remodeling complexes, involved in embryonic and neural development, and various gene mutations are associated with cognitive impairment. CSS has a highly variable genotype and phenotype expression, thus lacking standardized criteria for diagnosis. It is generally accepted to associate 5th digit/nail hypoplasia, intellectual disability (ID)/developmental delay and specific coarse facial features. CSS patients usually display miscellaneous cardiac, genitourinary and central nervous system (CNS) anomalies. Many patients also associate intrauterine growth restriction, failure to thrive and short stature, with several cases demonstrating growth hormone deficiency (GHD). We report the case of a 4-year-old girl with severe short stature (-3.2 standard deviations) due to pituitary hypoplasia and GHD that associated hypoplastic distal phalanx of the 5th digit in the hands and feet, severe ID, coarse facial features (bushy eyebrows, bulbous nose, flat nasal bridge, dental anomalies, thick lips, dental anomalies, bilateral epicanthal fold) and CNS anomalies (agenesis of the corpus callosum and bilateral hippocampal atrophy), thus meeting clinical criteria for the diagnosis of CSS. Karyotype was 46,XX. The patient was started on GH replacement therapy, with favorable outcomes. Current practical knowledge regarding CSS diagnosis and management from the endocrinological point of view is also reviewed.
摘要：
Coffin-Siris综合征（CSS）是一种罕见的遗传性疾病，由Brahma/BRG1相关因子（BAF）复合物中各种基因之一的单倍体不足引起。BAF复合物是染色质重塑复合物之一，参与胚胎和神经发育，和各种基因突变与认知障碍有关。CSS具有高度可变的基因型和表型表达，因此缺乏标准化的诊断标准。一般认为5位数/指甲发育不全,智力障碍（ID）/发育迟缓和特定的粗糙面部特征。CSS患者通常显示杂项心脏，泌尿生殖系统和中枢神经系统（CNS）异常。许多患者还联想到宫内生长受限，未能茁壮成长和身材矮小，几个病例证明生长激素缺乏症（GHD）。我们报告了一个4岁女孩的病例，由于垂体发育不全和GHD导致严重身材矮小（-3.2标准差），导致手和脚的第5指骨发育不全，严重的ID,粗糙的面部特征(浓密的眉毛，球形鼻子，扁平鼻梁,牙齿异常,厚厚的嘴唇，牙齿异常,双侧上皮褶皱）和中枢神经系统异常（call体发育不全和双侧海马萎缩），从而满足CSS诊断的临床标准。核型为46，XX。患者开始接受GH替代疗法,有有利的结果。还从内分泌学的角度回顾了有关CSS诊断和管理的当前实践知识。
