戈尔茨综合征：两例重症病例报告。
Goltz syndrome: report of two severe cases.
作者信息
Scott Riddell W, Pivnick Eniko K, Dowell Stacy H, Eubanks James W, Huang Eunice Y, Van den Veyver Ignatia B, Wang Xiaoling
机构信息
The Dermatology Group, 5210 Poplar Avenue, Memphis, Tennessee, 38119, USA.
出版信息
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.09.2008.0909. Epub 2009 Mar 17.
Abstract
Goltz syndrome is a rare, X-linked dominant congenital disorder with abnormalities in derivatives of each of the three embryonic germ layers. Its clinical phenotype varies widely, ranging from isolated skin defects to absence of limbs and/or organs. The rarity and wide range of presentation contribute to delayed or missed diagnosis.
摘要
戈尔茨综合征是一种罕见的X连锁显性先天性疾病，三个胚胎胚层的衍生物均存在异常。其临床表型差异很大，从孤立的皮肤缺陷到肢体和/或器官缺失不等。该病的罕见性和广泛的表现形式导致诊断延迟或漏诊。
相似文献
1
Goltz syndrome: report of two severe cases.戈尔茨综合征：两例重症病例报告。
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.09.2008.0909. Epub 2009 Mar 17.
2
Goltz syndrome: a newborn with ectrodactyly and skin lesions.戈尔茨综合征：一名患有缺指（趾）畸形和皮肤病变的新生儿。
Indian J Dermatol. 2015 Mar-Apr;60(2):215. doi: 10.4103/0019-5154.152608.
3
Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.小眼畸形并线性皮肤缺损综合征：精确诊断指导预后。
Pediatr Dermatol. 2020 Jan;37(1):217-218. doi: 10.1111/pde.13946. Epub 2019 Aug 2.
4
The orthopedic characterization of Goltz syndrome.戈尔茨综合征的骨科特征
Am J Med Genet C Semin Med Genet. 2016 Mar;172C(1):41-3. doi: 10.1002/ajmg.c.31470. Epub 2016 Feb 11.
5
Congenital anomalies of the female reproductive tract in a patient with Goltz syndrome.一名患有戈尔茨综合征患者的女性生殖道先天性异常
J Pediatr Adolesc Gynecol. 2009 Aug;22(4):e71-2. doi: 10.1016/j.jpag.2008.05.009.
6
[Focal dermal hypoplasia (Goltz syndrome)].[局灶性真皮发育不全（戈尔茨综合征）]
Bol Med Hosp Infant Mex. 2018;75(3):178-182. doi: 10.24875/BMHIM.M18000025.
7
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.严重戈尔茨-高林综合征与坎特雷尔五联征并存：病例报告及文献复习。
Am J Med Genet A. 2011 May;155A(5):1102-5. doi: 10.1002/ajmg.a.33895. Epub 2011 Apr 11.
8
Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.局灶性真皮发育不全：1例合并脊髓脊膜膨出、阿诺德-奇亚里畸形和脑积水的病例报告及戈尔茨综合征神经系统表现文献复习
Pediatr Dermatol. 2014 Mar-Apr;31(2):220-4. doi: 10.1111/pde.12267. Epub 2014 Jan 5.
9
An Unexpected Airway Complication in a Male Patient with Goltz Syndrome.
Case Rep Anesthesiol. 2016;2016:4659891. doi: 10.1155/2016/4659891. Epub 2016 Sep 18.
10
Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).局灶性真皮发育不全（戈尔茨综合征）的皮肤表现。
Am J Med Genet C Semin Med Genet. 2016 Mar;172C(1):44-51. doi: 10.1002/ajmg.c.31472. Epub 2016 Feb 9.
引用本文的文献
1
A non-mosaic mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.
Mol Genet Metab Rep. 2017 Jun 7;12:57-61. doi: 10.1016/j.ymgmr.2017.06.002. eCollection 2017 Sep.
本文引用的文献
1
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.Wnt信号通路的调节因子PORCN的缺乏与局灶性真皮发育不全相关。
Nat Genet. 2007 Jul;39(7):833-5. doi: 10.1038/ng2052. Epub 2007 Jun 3.
2
Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.X连锁的PORCN（一种假定的Wnt信号调节因子）突变会导致局灶性真皮发育不全。
Nat Genet. 2007 Jul;39(7):836-8. doi: 10.1038/ng2057. Epub 2007 Jun 3.
3
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.X连锁显性小眼症伴线性皮肤缺损综合征中线粒体全细胞色素c型合酶的突变。
Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 Sep 6.
4
Focal dermal hypoplasia with exuberant fat herniations and skeletal deformities.伴有大量脂肪疝出和骨骼畸形的局灶性真皮发育不全。
Pediatr Dermatol. 2005 Sep-Oct;22(5):420-3. doi: 10.1111/j.1525-1470.2005.00106.x.
5
Focal dermal hypoplasia.局灶性真皮发育不全
Arch Dermatol. 1962 Dec;86:708-17. doi: 10.1001/archderm.1962.01590120006002.
6
Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?伴有线状皮肤缺损的小眼畸形（MLS）、艾卡迪综合征和戈尔茨综合征：它们是相关的X连锁显性男性致死性疾病吗？
Cytogenet Genome Res. 2002;99(1-4):289-96. doi: 10.1159/000071606.
7
Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.戈尔茨综合征与范·艾伦-迈尔综合征的可能同一性：来自表型演变的证据。
Am J Med Genet. 2002 Jul 15;110(4):370-9. doi: 10.1002/ajmg.10456.
8
Infant with midline thoracoabdominal schisis and limb defects.
Teratology. 1998 Nov;58(5):205-8. doi: 10.1002/(SICI)1096-9926(199811)58:5<205::AID-TERA7>3.0.CO;2-X.
Zotero 插件