Gómez-López-Hernández综合征的产前诊断。

IF 1.6 3区 医学 Q3 OBSTETRICS & GYNECOLOGY Fetal Diagnosis and Therapy Pub Date : 2023-01-01 DOI:10.1159/000530643
Leo Pomar, Wawrzyniec Rieder, Estelle Dubruc, Fabienne Giuliano, Isis Atallah, Sébastien Lebon, Yvan Vial
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引用次数: 0

摘要

Gómez-López-Hernández综合征(GLHS),也称为小脑-三叉神经-真皮发育不良,是一种极其罕见的神经皮肤病,典型表现为斜形脑突触症(RES)、双侧局灶性脱发和三叉神经麻醉。现在已知GLHS的临床和影像学范围更广,包括颅面和幕上异常,以及神经发育问题。病例介绍:在这里,我们报告了一例产前诊断为GLHS的病例,伴有RES,脑积水,超声发现颅面异常(低置耳后旋,远距过大,面中部发育不全,小颌和前倾),在妊娠23周终止妊娠后尸检证实。讨论:由于没有确定已知的遗传原因,经典的三联征不适用于产前影像学,产前诊断GLHS是基于神经影像学和支持性特征的识别。如果RES伴有产前颅面异常(短头畸形、尖头畸形、低耳、中脸后缩、小颌),则应根据产后标准考虑GLHS为“可能”。
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Prenatal Diagnosis of Gómez-López-Hernández Syndrome.

Introduction: Gómez-López-Hernández syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia, is an extremely rare neurocutaneous disease, classically described by the triad of rhombencephalosynapsis (RES), bilateral focal alopecia, and trigeminal anesthesia. The clinical and radiographic spectrum of GLHS is now known to be broader, including craniofacial and supratentorial anomalies, as well as neurodevelopmental issues.

Case presentation: Here, we present a case of antenatally diagnosed GLHS with RES, hydrocephaly, and craniofacial anomalies identified on ultrasound (low-set ears with posterior rotation, hypertelorism, midface hypoplasia, micrognathia, and anteverted nares) which were confirmed by autopsy after termination of pregnancy at 23 weeks of gestation.

Discussion: As no known genetic causes have been identified and the classical triad is not applicable to prenatal imaging, prenatal diagnosis of GLHS is based on neuroimaging and the identification of supporting features. In presence of an RES associated with craniofacial abnormalities in prenatal (brachycephaly, turricephaly, low-set ears, midface retrusion, micrognathia), GLHS should be considered as "possible" according to postnatal criteria.

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来源期刊
Fetal Diagnosis and Therapy
Fetal Diagnosis and Therapy 医学-妇产科学
CiteScore
4.70
自引率
9.10%
发文量
48
审稿时长
6-12 weeks
期刊介绍: The first journal to focus on the fetus as a patient, ''Fetal Diagnosis and Therapy'' provides a wide range of biomedical specialists with a single source of reports encompassing the common discipline of fetal medicine.
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