지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 31 - 35 (5page)
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초록· 키워드
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Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of $17{\alpha}$-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.
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등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Senarath-Yapa K / 2012 / Craniosynostosis: molecular pathways and future pharmacologic therapy / Organogenesis 8:103~113
Agochukwu NB / 2012 / Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses / Childs Nerv Syst 28:1447~1463
Miller WL / 2004 / P450 oxidoreductase deficiency : a new disorder of steroidogenesis with multiple clinical manifestations / Trends Endocrinol Metab 15:311~315
Sahakitrungruang T / 2009 / Clinical, genetic, and enzymatic characterization of P450oxidoreductase deficiency in four patients / J Clin Endocrinol Metab 94:4992~5000
Flück CE / 2006 / P450 oxidoreductase deficiency : a new form of congenital adrenal hyperplasia / Curr Opin Pediatr 18:435~441
Agochukwu NB / 2012 / Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses / Childs Nerv Syst 28:1447~1463
Miller WL / 2004 / P450 oxidoreductase deficiency : a new disorder of steroidogenesis with multiple clinical manifestations / Trends Endocrinol Metab 15:311~315
Sahakitrungruang T / 2009 / Clinical, genetic, and enzymatic characterization of P450oxidoreductase deficiency in four patients / J Clin Endocrinol Metab 94:4992~5000
Flück CE / 2006 / P450 oxidoreductase deficiency : a new form of congenital adrenal hyperplasia / Curr Opin Pediatr 18:435~441
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