X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene who presented with a short stature, genu valgum, and scaphocephaly. The same mutation was identified in his mother and sister; however, the patient presented with a more severe case.

中文翻译：

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具有新的PHEX突变的XLH家庭的表型

X连锁低磷血症（XLH）是遗传性低磷病的最常见形式。我们遇到了一个4岁男孩，该男孩在磷酸盐调节的中性内肽酶同系物X连锁（PHEX）基因中具有新的变异，其表现出矮小的身材，外翻和肩cap骨。他的母亲和姐姐也发现了同样的突变。但是，患者的情况更为严重。