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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| http://dx.doi.org/10.1016/j.amsu.2022.103926 | DOI Listing |
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