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CASE SERIES
Open Access

oa

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series
Eimear Loftus, Zaineb Elbishari, Patricia Fitzsimons, Caoimhe Howard, Yusra Sheikh, Bryan Lynch, Ellen Crushell, Ina Knerr,

First published: 25 June 2025
CASE REPORT
Open Access

oa

The phenotypic spectrum of the Cornelia de Lange-like “Alazami-Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature
Annie Pappas, Mary Mooney, Katherine Kohnen, Joshua W. Owens, Wenying Zhang, Robert J. Hopkin, Amelle Shillington,

First published: 02 May 2025
CASE REPORT
Open Access

oa

Identification of DICER1 Syndrome on the Basis of Familial, Early-Onset Differentiated Thyroid Cancer
Jessica Y. Wong, Alex Henderson, Simon Harper, Richard W. Carroll, Peter B. Bethwaite, Esko Wiltshire,

First published: 28 March 2025

Graphical Abstract
CASE REPORT
Open Access

oa

Kounis Syndrome Type 2 due to Ingestion of a Fish Meal: A Case Report
Bassem Al Hariri, Obada Adel Alsakaji, Abdelkarim Mohamed, Muad Abdi Hassan,

First published: 27 March 2025
CASE REPORT
Open Access

oa

A Diagnostic Challenge for Bilateral Lung Involvement in a 13-Month-Old Saudi Child Due to Multiple Popcorn Kernel Aspirations: A Case Report
Mohamed Al Omari, Saleh Al Fulayyih, Ahmed Nawfal M. Alshammari, Sara Amer Alomar, Majid Alhumaidi S. Aldossary, Maan Abdullah Albehair, Mohammed Shahab Uddin,

First published: 03 March 2025

Graphical Abstract
CASE IMAGE
Open Access

oa

Cheilitis Granulomatosa in Childhood: Unveiling an Uncommon Cause of Lip Enlargement
Shintaro Fujiwara, Yousuke Higuchi, Yuma Nishimura, Sayuri Yokomizo, Yoko Shinno,

First published: 27 February 2025
CASE REPORT
Open Access

oa

Heterotopic Pregnancy Following Ovulation Induction With Successful Pregnancy Outcome: A Case Report
Urbi Ghimire, Isha Manandhar, Samiksha Shrestha, Rambha Sah, Jyoti Lamichhane, Jageshwor Gautam,

First published: 25 February 2025
CASE IMAGE
Open Access

oa

Subdural Abscess From Acute Sinusitis in a Patient With Ornithine Transcarbamylase Deficiency
Yuya Ito, Toshihiko Kakiuchi, Fumitaka Yoshioka, Masato Yoshiura,

First published: 23 February 2025
CASE REPORT
Open Access

oa

Experience With Vaughan-Jackson Syndrome at Eastern Regional Referral Hospital, Bhutan: Diagnosis and Its Treatment
Kinzang Dorji,

First published: 20 February 2025
CASE REPORT
Open Access

oa

Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1–4 of GH1 Gene: A Case Report
Shahab Noorian, Hedieh Soltani, Fatemeh Aghamahdi, Shahram Savad, Mahnaz Seifi Alan,

First published: 19 February 2025
CASE REPORT
Open Access

oa

Successful Use of Caffeine Citrate for Neonate With Bronchiolitis-Related Apnea: Case Report and Clinical Insights
Abdulla Alfraij, Ahmed Aboalazm,

First published: 19 February 2025
CASE REPORT
Open Access

oa

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience
Mohammadreza Alaee, Hedyeh Saneifard, Marjan Shakiba, Marjan Hanifeh, Shirin Moarefian,

First published: 18 February 2025

Graphical Abstract
CASE REPORT
Open Access

oa

Congenital Partial Hypoplasia of the Lower Lip: A Rare Form of 28–29 Tessier Cleft? Report of a Case
Olina Rios, Virginie Lafontaine, Cyril Debortoli, Charles Savoldelli, Beatrice Morand,

First published: 18 February 2025

Graphical Abstract
CASE REPORT
Open Access

oa

Rapid Growth of a Hepatic Hydatid Cyst in a Pediatric Patient: A Case Report From Iran and Its Clinical Significance
Shirin Sayyahfar, Faham Khamesipour, Elham Zarei, Javad Nasiri,

First published: 17 February 2025
CASE REPORT
Open Access

oa

Trichobezoar as an Unusual Cause for Iron Deficiency Anemia: A Rare Case Report
Mohamad Moamen Almouallem, Majd Hanna, Nafiza Martini, Ahmad Alfarouh, Rand Mousseli, Maysam Yaldany, Jaber Mahmod,

First published: 10 February 2025
CASE REPORT
Open Access

oa

Bifocal metachronous dermato fibrosarcoma protuberans in children: A case report
Wajdi Arfa, Leila Bouhajja, Mohamed Ghammem, Mohamed Amri, Faten Farah, Zied Jlalia, Mourad Jenzri,

First published: 31 January 2025
CASE REPORT
Open Access

oa

A Rare Case of Facial Arteriovenous Malformation in a 3-Year-Old Female
Bernadette Pedun, Ivaan Pitua, Felix Bongomin, Valeria Nabbosa, Samuel Bugeza,

First published: 27 January 2025
CASE REPORT
Open Access

oa

Successful Penile Refashioning Plus Glans Reconstruction With a Buccal Mucosa Graft: A Case Report
Erisa Christopher Gombya, Alleluyah Kemigisa, Racheal Kirabo, Ritah Nantale, David Mukunya, Job Kuteesa,

First published: 23 January 2025
CASE REPORT
Open Access

oa

A Rare Presentation of Fahr's Syndrome Associated With Secondary Hyperparathyroidism
Simin Najafgholian, Mahbod Soltani, Sanaz Amirian, Negar Pourahmadian,

First published: 19 January 2025

Graphical Abstract
CASE REPORT
Open Access

oa

Heart Shaped Anterior Neck Lipoma Mimicking Thyroid Mass: A Case Report
Abdus Samad Ansari, Dhiraj Chaurasia, Bikash Yadav, Season Shrestha, Inku Shrestha Basnet,

First published: 09 January 2025

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oa

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

oa

The phenotypic spectrum of the Cornelia de Lange-like “Alazami-Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature

oa

Identification of DICER1 Syndrome on the Basis of Familial, Early-Onset Differentiated Thyroid Cancer

Graphical Abstract

oa

Kounis Syndrome Type 2 due to Ingestion of a Fish Meal: A Case Report

oa

A Diagnostic Challenge for Bilateral Lung Involvement in a 13-Month-Old Saudi Child Due to Multiple Popcorn Kernel Aspirations: A Case Report

Graphical Abstract

oa

Cheilitis Granulomatosa in Childhood: Unveiling an Uncommon Cause of Lip Enlargement

oa

Heterotopic Pregnancy Following Ovulation Induction With Successful Pregnancy Outcome: A Case Report

oa

Subdural Abscess From Acute Sinusitis in a Patient With Ornithine Transcarbamylase Deficiency

oa

Experience With Vaughan-Jackson Syndrome at Eastern Regional Referral Hospital, Bhutan: Diagnosis and Its Treatment

oa

Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1–4 of GH1 Gene: A Case Report

oa

Successful Use of Caffeine Citrate for Neonate With Bronchiolitis-Related Apnea: Case Report and Clinical Insights

oa

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience

Graphical Abstract

oa

Congenital Partial Hypoplasia of the Lower Lip: A Rare Form of 28–29 Tessier Cleft? Report of a Case

Graphical Abstract

oa

Rapid Growth of a Hepatic Hydatid Cyst in a Pediatric Patient: A Case Report From Iran and Its Clinical Significance

oa

Trichobezoar as an Unusual Cause for Iron Deficiency Anemia: A Rare Case Report

oa

Bifocal metachronous dermato fibrosarcoma protuberans in children: A case report

oa

A Rare Case of Facial Arteriovenous Malformation in a 3-Year-Old Female

oa

Successful Penile Refashioning Plus Glans Reconstruction With a Buccal Mucosa Graft: A Case Report

oa

A Rare Presentation of Fahr's Syndrome Associated With Secondary Hyperparathyroidism

Graphical Abstract

oa

Heart Shaped Anterior Neck Lipoma Mimicking Thyroid Mass: A Case Report

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oa Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

oa The phenotypic spectrum of the Cornelia de Lange-like “Alazami-Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature

oa Identification of DICER1 Syndrome on the Basis of Familial, Early-Onset Differentiated Thyroid Cancer

Graphical Abstract

oa Kounis Syndrome Type 2 due to Ingestion of a Fish Meal: A Case Report

oa A Diagnostic Challenge for Bilateral Lung Involvement in a 13-Month-Old Saudi Child Due to Multiple Popcorn Kernel Aspirations: A Case Report

Graphical Abstract

oa Cheilitis Granulomatosa in Childhood: Unveiling an Uncommon Cause of Lip Enlargement

oa Heterotopic Pregnancy Following Ovulation Induction With Successful Pregnancy Outcome: A Case Report

oa Subdural Abscess From Acute Sinusitis in a Patient With Ornithine Transcarbamylase Deficiency

oa Experience With Vaughan-Jackson Syndrome at Eastern Regional Referral Hospital, Bhutan: Diagnosis and Its Treatment

oa Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1–4 of GH1 Gene: A Case Report

oa Successful Use of Caffeine Citrate for Neonate With Bronchiolitis-Related Apnea: Case Report and Clinical Insights

oa Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience

Graphical Abstract

oa Congenital Partial Hypoplasia of the Lower Lip: A Rare Form of 28–29 Tessier Cleft? Report of a Case

Graphical Abstract

oa Rapid Growth of a Hepatic Hydatid Cyst in a Pediatric Patient: A Case Report From Iran and Its Clinical Significance

oa Trichobezoar as an Unusual Cause for Iron Deficiency Anemia: A Rare Case Report

oa Bifocal metachronous dermato fibrosarcoma protuberans in children: A case report

oa A Rare Case of Facial Arteriovenous Malformation in a 3-Year-Old Female

oa Successful Penile Refashioning Plus Glans Reconstruction With a Buccal Mucosa Graft: A Case Report

oa A Rare Presentation of Fahr's Syndrome Associated With Secondary Hyperparathyroidism

Graphical Abstract

oa Heart Shaped Anterior Neck Lipoma Mimicking Thyroid Mass: A Case Report

oa

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series

oa

The phenotypic spectrum of the Cornelia de Lange-like “Alazami-Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature

oa

Identification of DICER1 Syndrome on the Basis of Familial, Early-Onset Differentiated Thyroid Cancer

oa

Kounis Syndrome Type 2 due to Ingestion of a Fish Meal: A Case Report

oa

A Diagnostic Challenge for Bilateral Lung Involvement in a 13-Month-Old Saudi Child Due to Multiple Popcorn Kernel Aspirations: A Case Report

oa

Cheilitis Granulomatosa in Childhood: Unveiling an Uncommon Cause of Lip Enlargement

oa

Heterotopic Pregnancy Following Ovulation Induction With Successful Pregnancy Outcome: A Case Report

oa

Subdural Abscess From Acute Sinusitis in a Patient With Ornithine Transcarbamylase Deficiency

oa

Experience With Vaughan-Jackson Syndrome at Eastern Regional Referral Hospital, Bhutan: Diagnosis and Its Treatment

oa

Isolated Growth Hormone Deficiency IA due to a Novel Homozygous Large Deletion ∼1.6 kb Spanning Exons 1–4 of GH1 Gene: A Case Report

oa

Successful Use of Caffeine Citrate for Neonate With Bronchiolitis-Related Apnea: Case Report and Clinical Insights

oa

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience

oa

Congenital Partial Hypoplasia of the Lower Lip: A Rare Form of 28–29 Tessier Cleft? Report of a Case

oa

Rapid Growth of a Hepatic Hydatid Cyst in a Pediatric Patient: A Case Report From Iran and Its Clinical Significance

oa

Trichobezoar as an Unusual Cause for Iron Deficiency Anemia: A Rare Case Report

oa

Bifocal metachronous dermato fibrosarcoma protuberans in children: A case report

oa

A Rare Case of Facial Arteriovenous Malformation in a 3-Year-Old Female

oa

Successful Penile Refashioning Plus Glans Reconstruction With a Buccal Mucosa Graft: A Case Report

oa

A Rare Presentation of Fahr's Syndrome Associated With Secondary Hyperparathyroidism

oa

Heart Shaped Anterior Neck Lipoma Mimicking Thyroid Mass: A Case Report