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患有三叶形头盖骨畸形的克鲁宗综合征双胞胎。

Crouzon twins with cloverleaf skull malformations.

作者信息

David D J, Cooter R D, Edwards T J

机构信息

Adelaide Children's Hospital, Australia.

出版信息

J Craniofac Surg. 1991 Jul;2(2):56-60; discussion 61. doi: 10.1097/00001665-199102020-00002.

DOI:10.1097/00001665-199102020-00002
PMID:1814484
Abstract

We describe unique monozygotic twins with Crouzon's disease and cloverleaf-shaped skull deformities who have been closely followed since birth. Their abnormal skull shapes were identified during antenatal ultrasound examination. The twins had gross exophthalmos and hydrocephalus with papilledema, so early calvarial decompression surgery was required. Although born to healthy parents of normal appearance, a third cousin of the twins had a milder form of Crouzon's disease, and there was a family history of high-arched palate on the twins' paternal side. Because Crouzon's disease is an uncommon condition and the cloverleaf skull shape is unusual in patients with Crouzon's disease, identical twins with this constellation of deformities must be exceptionally rare.

摘要

我们描述了一对患有克鲁宗病和三叶草形颅骨畸形的独特同卵双胞胎,自出生起就受到密切跟踪。他们异常的颅骨形状在产前超声检查时被发现。这对双胞胎有明显的眼球突出和伴有视乳头水肿的脑积水,因此需要早期进行颅骨减压手术。尽管这对双胞胎的父母外表健康,但他们的一个远房表亲患有症状较轻的克鲁宗病,并且在双胞胎父亲一方有高拱腭的家族病史。由于克鲁宗病并不常见,且三叶草形颅骨在克鲁宗病患者中也不寻常,所以具有这种畸形组合的同卵双胞胎肯定极其罕见。

相似文献

1
Crouzon twins with cloverleaf skull malformations.患有三叶形头盖骨畸形的克鲁宗综合征双胞胎。
J Craniofac Surg. 1991 Jul;2(2):56-60; discussion 61. doi: 10.1097/00001665-199102020-00002.
2
Cloverleaf skull--a severe form of Crouzon's syndrome: a new concept in aetiology.
Acta Neurochir (Wien). 1991;108(1-2):45-52. doi: 10.1007/BF01407666.
3
Kleeblattschädel (cloverleaf) syndrome: severe form of Crouzon's disease?
J Pediatr. 1972 Mar;80(3):526-8. doi: 10.1016/s0022-3476(72)80526-2.
4
Hemangiomatous anomaly of bone in Crouzon's syndrome: case report.克鲁宗综合征中的骨血管瘤样异常:病例报告
Neurosurgery. 1985 Mar;16(3):391-4. doi: 10.1227/00006123-198503000-00019.
5
[Syndromes 6. Crouzon's disease].[综合征6. 克鲁宗病]
Ned Tijdschr Tandheelkd. 1998 Dec;105(12):451-2.
6
[Crouzon's syndrome. Description of a case treated surgically in the fifth month of life].[克鲁宗综合征。1例在出生后第5个月接受手术治疗的病例描述]
Pediatr Med Chir. 1983 Sep-Oct;5(5):417-9.
7
Clinical features of Crouzon's syndrome patients with and without a positive family history of Crouzon's syndrome.有或无克鲁宗综合征家族史的克鲁宗综合征患者的临床特征。
J Craniofac Surg. 1997 Jan;8(1):11-3. doi: 10.1097/00001665-199701000-00006.
8
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.单卵双胞胎中存在三叶形颅骨差异的致死性发育不良:产前诊断、临床及病理发现
Am J Med Genet. 1992 Jan 1;42(1):122-6. doi: 10.1002/ajmg.1320420125.
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An infant with Crouzon's syndrome with a cartilaginous trachea and a human tail.
J Craniomaxillofac Surg. 1992 Jan;20(1):21-3. doi: 10.1016/s1010-5182(05)80191-x.
10
[Family with Crouzon's craniofacial dysostosis].[患有克鲁宗颅面骨发育不全症的家族]
J Genet Hum. 1974 Dec;22(4):381-7.

引用本文的文献

1
Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management.患有克鲁宗综合征的同卵双胞胎:八年随访、遗传学考量及手术治疗
Craniomaxillofac Trauma Reconstr. 2017 Dec;10(4):286-291. doi: 10.1055/s-0036-1592091. Epub 2016 Sep 2.