一例罕见的产前诊断为多囊肾的普费弗综合征。

IF 0.7 Q4 OBSTETRICS & GYNECOLOGY

Journal of Obstetrics and Gynecology of India Pub Date : 2025-04-01 Epub Date: 2024-09-14 DOI:10.1007/s13224-024-02020-5

Poornima Sharma, Shreya Singh Kushwaha, Suchandana Dasgupta, Sumitra Bachani

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引用次数: 0

摘要

Pfeiffer综合征是一种罕见的综合征性颅缝闭闭，其特征为双侧冠状颅缝闭闭，面中部发育不全，鼻尖呈喙状，拇指和大脚趾宽中偏。它是由影响成纤维细胞生长因子受体1型或2型（FGFR1或FGFR2）的突变引起的，具有常染色体显性遗传。它显示出大量的临床和遗传异质性。这种疾病通常在新生儿期被发现，很少有产前诊断的病例被报道。

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A Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney.

Pfeiffer syndrome is a rare syndromic craniosynostosis characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. It is caused by mutations affecting the fibroblast growth factor receptors type 1 or 2 (FGFR1 or FGFR2), with autosomal dominant inheritance. It displays substantial clinical and genetic heterogeneity. The disorder is usually detected in the neonatal period, and very few prenatally diagnosed cases have been reported.

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来源期刊

Journal of Obstetrics and Gynecology of India OBSTETRICS & GYNECOLOGY-

CiteScore

1.30

自引率

0.00%

发文量

124

期刊介绍： Journal of Obstetrics and Gynecology of India (JOGI) is the official journal of the Federation of Obstetrics and Gynecology Societies of India (FOGSI). This is a peer- reviewed journal and features articles pertaining to the field of obstetrics and gynecology. The Journal is published six times a year on a bimonthly basis. Articles contributed by clinicians involved in patient care and research, and basic science researchers are considered. It publishes clinical and basic research of all aspects of obstetrics and gynecology, community obstetrics and family welfare and subspecialty subjects including gynecological endoscopy, infertility, oncology and ultrasonography, provided they have scientific merit and represent an important advance in knowledge. The journal believes in diversity and welcomes and encourages relevant contributions from world over. The types of articles published are: · Original Article· Case Report · Instrumentation and Techniques · Short Commentary · Correspondence (Letter to the Editor) · Pictorial Essay