Jones Gabriela E, Robertson Lisa, Maniyar Amit, Shammas Christos, Phelan Marie M, Vasudevan Pradeep C, Tanteles George A
Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.
North of Scotland Clinical Genetics Service, Aberdeen, United Kingdom.
Am J Med Genet A. 2016 Mar;170(3):754-9. doi: 10.1002/ajmg.a.37511. Epub 2016 Jan 5.
Steinfeld syndrome (MIM #184705) was first reported in 1982. It is characterised by holoprosencephaly and limb defects, however other anomalies may also be present. Following the initial description, three further cases have been reported in the literature. We report on a 23-year-old girl, with features of microform holoprosencephaly and bilateral congenital elbow dislocation in association with hypoplastic radial heads. She was identified to have a variant in the CDON gene inherited from her father who had ocular hypotelorism, but no other clinical features. We discuss the clinical features of Steinfeld syndrome, and broaden the phenotypic spectrum of this condition. Structural analysis suggests that this variant could lead to destabilisation of binding of CDON with hedgehog proteins. Further work needs to be done to confirm whether mutations in the CDON gene are the cause of Steinfeld syndrome.
施泰因费尔德综合征（MIM #184705）于1982年首次被报道。其特征为全前脑畸形和肢体缺陷，不过也可能存在其他异常。在最初的描述之后，文献中又报道了另外三例病例。我们报告了一名23岁女孩，具有微小型全前脑畸形的特征以及双侧先天性肘关节脱位，并伴有桡骨头发育不全。她被确定在CDON基因中有一个变异，该变异遗传自她患有眼距过窄但无其他临床特征的父亲。我们讨论了施泰因费尔德综合征的临床特征，并拓宽了这种病症的表型谱。结构分析表明，这种变异可能导致CDON与刺猬蛋白的结合不稳定。需要进一步开展工作以确认CDON基因中的突变是否为施泰因费尔德综合征的病因。
