alazami syndrome

A Rare Consanguineous Case of Alazami Syndrome in a Jordanian Family: Clinical Presentation, Genetic Analysis, and Therapeutic Approaches - A Case Report

  • Fawzi Irshaid*, Salim Alawneh, Qasim Al Souhail, Aisha Alshdefat, Bashar Irshaid and Ahmed Irshaid

Published on: 7th May, 2024

Objective: Alazami syndrome (AS) is an infrequent genetic disorder inherited in an autosomal recessive pattern, characterized by the presence of multiple congenital abnormalities. This study explores a case of a 4-year-old girl with AS, examining symptoms, genetic factors, and treatment efficacy. Case report: A 4-year-old girl, born to consanguineous Jordanian parents, displayed dysmorphic features including low birth weight, microcephaly, hyperthyroidism, short stature, blue sclera, triangular-shaped face, deep-set eyes, narrow palpebral fissures, and a prominent forehead. Examination revealed height (92 cm) and weight (7.7 kg) below the 5th and 3rd percentiles respectively. Blood tests and renal ultrasound were normal. Whole exome sequencing (WES) identified a homozygous eight-base pair deletion within exon 5 of the LARP7 gene on chromosome 4q25, confirming the diagnosis of AS, an autosomal recessive disorder. This variant induces frameshift mutations leading to premature stop codons, suggesting a probable mechanism of illness via loss of function. Treatment involving growth monitoring and therapy led to significant improvements in height, weight, and communication skills within three months. Conclusion: We describe a rare autosomal recessive AS case due to consanguinity, with a frameshift mutation in the LARP7 gene found via WES. Our AS treatment program effectively alleviates symptoms and enhances developmental progress.
Cite this ArticleCrossMarkPublonsHarvard Library HOLLISGrowKudosResearchGateBase SearchOAI PMHAcademic MicrosoftScilitSemantic ScholarUniversite de ParisUW LibrariesSJSU King LibrarySJSU King LibraryNUS LibraryMcGillDET KGL BIBLiOTEKJCU DiscoveryUniversidad De LimaWorldCatVU on WorldCat
AbstractDOI: 10.29328/journal.jcmei.1001031Read Full Article HTMLRead Full Article PDF

Search by University/Institution

Enter your University/Institution to find colleagues at HSPI.

Ensuring author's satisfaction with

  • Friendly and hassle-free publication process
  • Less production time of articles
  • Constructive peer-review
  • Enhancing journal reputation
  • Regular feedback system
  • Quick response to authors' queries

Read More

Most Viewed Keywords

All Issues in 2025

Search Articles by Country

Get all latest articles in all Heighten Science Publications Inc journals by country.

Testmonials

Submission of paper was smooth, the review process was fast. I had excellent communication and on time response from the editor.

Ayokunle Dada

Service and process were excellent as was the “look” of the article when published.

Deane Waldman

“It was a delightful experience publishing my manuscript with the Clinical Journal of Obstetrics and Gynecology. They offered me lots of opportunities I never had from most publishing houses and the...

Asafo Jones

Submission of paper was smooth, the review process was fast. I had excellent communication and on time response from the editor.

Ekiti State University Teaching Hospital, Nigeria

Ayokunle Dada

I wanna to thank clinical journal of nursing care and practice for its effort to review and publish my manuscript. This is reputable journal. Thank you!

Wollo University, Ethiopia

Atsedemariam Andualem

“The choice to submit the forensic case study to the Journal of Addiction Therapy and Research was dictated by the match between the content and the potential readership. The publication process pro...

Ph.D, Boston University Department of Communicatio...

Elisabeth H. Wiig

I do appreciate for your service including submission, analysis, review, editorial and publishing process. I believe these esteemed journal enlighten the science with its high-quality personel.

Bora Uysal

"It was a pleasure to work with the editorial team of the journal on the submission of the manuscript. The team was professional, fast, and to the point".

NC A&T State University, USA

Moran Sciamama-Saghiv

Your service is excellent. Processing and editing were very fast. I hope to publish more of my works in your journal.

Ausraful Islam

Thank you very much for your support and encouragement. I am truly impressed by your tolerance and support. Thank you very much

Diaverum: PADC, Jeddah, Saudi Arabia

Nasrulla Abutaleb

View More

Browse by Subjects

Biology Group Journals

Chemistry Group Journals

Pharma Group Journals

Mathematics & Physics Group Journals

Engineering Group Journals

Clinical Group Journals

Medical Group Journals

Help ?

HSPI: We're glad you're here. Please click "create a new Query" if you are a new visitor to our website and need further information from us.

If you are already a member of our network and need to keep track of any developments regarding a question you have already submitted, click "take me to my Query."