Division of Pediatric Endocrinology, The Warren Alpert Medical School, Brown University, Providence, Rhode Island.
Department of Internal Medicine-Pediatrics and.
Pediatrics. 2018 Apr;141(Suppl 5):S515-S519. doi: 10.1542/peds.2017-2522.
Craniosynostosis is the premature closure of cranial sutures. Primary, or congenital, craniosynostosis is often sporadic but may be associated with genetic or chromosomal abnormalities. Secondary craniosynostosis presents after gestation, and can occur in metabolic bone diseases, including rickets. We describe the first reported cases of primary craniosynostosis in 2 unrelated, term infants with X-linked hypophosphatemic rickets (XLH). The diagnosis of XLH in both patients was confirmed by genetic testing. At the time craniosynostosis was detected, the patient in the first case did not have any other clinical features of XLH. The second patient developed clinical findings of craniosynostosis, followed by rickets. These are the earliest reported cases of craniosynostosis in XLH and demonstrate that craniosynostosis may be a presenting feature of this disease.
颅缝早闭是颅骨缝过早闭合。原发性或先天性颅缝早闭通常是散发性的，但可能与遗传或染色体异常有关。继发性颅缝早闭发生在妊娠后，可发生在代谢性骨病中，包括佝偻病。我们描述了首例与 X 连锁低磷血症性佝偻病（XLH）相关的 2 例无关、足月婴儿的原发性颅缝早闭病例。这两个患者的 XLH 诊断均通过基因检测得到证实。在发现颅缝早闭时，第一个病例的患者没有 XLH 的任何其他临床特征。第二个患者出现颅缝早闭的临床发现，随后出现佝偻病。这些是 XLH 中最早报道的颅缝早闭病例，表明颅缝早闭可能是该疾病的一个表现特征。
