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McKusick-Kaufman Syndrome in An Iraqi Neonate: A Case Report

Year: 2024

Type: article

Abstract: McKusick-Kaufman (MKS) syndrome is a rare, autosomal recessive disorder, determined by genetic mutation in the MKKS gene on chromosome 20. MKS commonly manifests with three primary components: Polydactyly, Congenital Heart Defects, and Genital and Urogenital Abnormalities. Most reported cases are of Amish descent, with only one Arabic documented case. We present a case of a genetic mutation of MKKS gene in an Iraqi female neonate who presented with repeated non-projectile non-bilious vomiting and abdominal distension. The examination showed a postaxial polydactyly in the hands and feet, an ejection systolic murmur, and an abdominal mass. Perineal examination revealed no vaginal orifice. Diagnosing MKS may necessitate a comprehensive approach due to its rarity and diversity in manifestation. Ruling out Bardet-Biedl syndrome, which shares MKS features, was difficult due to genetic test unavailability; for that patient was kept on follow-up. A high suspicion index, early diagnosis, and customized treatment strategies are essential to address each case's distinct symptoms and requirements, frequently using a multidisciplinary medical team to prevent complications.

Source: AL-Kindy College Medical Journal

DOI: 10.47723/1h3v8e14

Authors: Nabeeha Najatee Akram, Shaymaa Khalid Abdulqader, Wassan Nori, Mustafa Ali Kassim Kassim, Alexandru Cosmin Pantazi

Institutions: Mustansiriyah University, University of Baghdad, Ovidius University

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4404921271

FWCI:

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