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

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 w...

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Detalles Bibliográficos
Autores principales: Ullah, Irfan, Rauf, Shahzad, Ali, Sajjad, Khan, Kiran Shafiq, Zahid, Tayyaba, Malik, Jahanzeb, Afridi, Rifayat Ullah, Asghar, Muhammad Sohaib
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289321/
https://www.ncbi.nlm.nih.gov/pubmed/35860126
http://dx.doi.org/10.1016/j.amsu.2022.103926
Descripción
Sumario: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.

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