纹状骨病伴颅骨硬化症：从面容到影像学再到基因的诊断
Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis.
作者信息
Arora Veronica, Bijarnia-Mahay Sunita, Saxena K K, Suman Praveen, Kukreja Shyam
机构信息
Department of Clinical & Metabolic Genetics, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Department of Radiology, Sir Ganga Ram Hospital, New Delhi, India.
出版信息
J Pediatr Genet. 2020 Aug 4;11(1):63-67. doi: 10.1055/s-0040-1715120. eCollection 2022 Mar.
Osteopathia striata with cranial sclerosis is an X-linked dominant bone dysplasia with osteosclerosis. It should be suspected in girls with macrocephaly, intellectual disability with unique facial dysmorphic features. We described the clinical and radiological profile of a patient with this rare disorder. A novel heterozygous variant was identified in the gene which leads to premature truncation of the AMER1 protein. Facial gestalt recognition using artificial intelligence and radiographic features were used to narrow the differential diagnosis.
纹状骨病伴颅骨硬化是一种与骨硬化相关的X连锁显性骨发育异常。对于患有巨头畸形、伴有独特面部畸形特征的智力残疾女孩，应怀疑患有此病。我们描述了一名患有这种罕见疾病患者的临床和放射学特征。在该基因中鉴定出一种新的杂合变异，该变异导致AMER1蛋白过早截断。利用人工智能进行面部形态识别以及放射学特征来缩小鉴别诊断范围。
Zotero 插件