1例围产期诊断的麦库西克-考夫曼综合征病例报告及文献复习

A case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review.

作者信息

Ullah Irfan, Rauf Shahzad, Ali Sajjad, Khan Kiran Shafiq, Zahid Tayyaba, Malik Jahanzeb, Afridi Rifayat Ullah, Asghar Muhammad Sohaib

机构信息

Department of Pediatrics, Kabir Medical College, Gandhara University, Peshawar, Pakistan.

Department of Pediatrics, Khyber Teaching Hospital, Peshawar, Pakistan.

出版信息

Ann Med Surg (Lond). 2022 Jun 6;79:103926. doi: 10.1016/j.amsu.2022.103926. eCollection 2022 Jul.

DOI:10.1016/j.amsu.2022.103926

PMID:35860126

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9289321/

Abstract

INTRODUCTION

and importance: McKusick-Kaufman syndrome (MKS) is a rarely reported autosomal recessive syndrome characterized by hydrometrocolpos (HMC), polydactyly and various gastrointestinal and renal manifestations.

CASE PRESENTATION

We present a case of suspected MKS in a prenatal ultrasound with dilated lateral ventricles of the brain and HMC.

CLINICAL DISCUSSION

Main differential diagnosis includes Bardet-Beidel syndrome (BBS) which can present with HMC and polydactyly but retinal manifestations are a differentiating feature from MKS.

CONCLUSION

Both of the disease syndromes are diagnosed clinically after birth.Keywords: McKusick Syndrome, Bardet-beidel syndrome, hydrometrocolpos, case report.

摘要