Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis
Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis
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DOI：
10.1055/s-0040-1715120
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发表时间：
2022-03-01
影响因子：
0.4
通讯作者：
Kukreja, Shyam
中科院分区：
文献类型：
--
作者：
Arora, Veronica;Bijarnia-Mahay, Sunita;Kukreja, Shyam
伴有颅硬化的条纹状骨病是一种X连锁显性骨发育不良伴骨质疏松。它应怀疑在女孩与大头畸形，智力残疾与独特的面部畸形特征。我们描述了这种罕见疾病的患者的临床和放射学资料。在AMER1基因中鉴定了一种新的杂合变体，其导致AMER1蛋白的过早截短。使用人工智能和放射学特征的面部完形识别用于缩小鉴别诊断。
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 AMER1 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.