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July 2020 -
Volume 18, Issue 7

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From the Editor

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Original Contribution

Physical activity guidelines awareness and counselling practice in relation to health care providers’ knowledge and behaviour in Qatar
[Abstract]
[pdf]
Mohamed Ghaith Al-Kuwari, Ahmad Muslim Al-Hamdani , Wadha Ahmad Al-Baker
DOI: 10.5742MEWFM.2020.93828

Satisfaction among patients attending the continuity of care clinic in West Bay health center in Qatar
[Abstract]
[pdf]
Mohamed Salem, Amal Al-Ali, Lolwa Al-Maslamani, Hisham El-Mahdi, Shumoos Abed, Mustafa Abugesiesa, Safa Qaissi, Sahar Omer, Eman Abuhzima
DOI: 10.5742MEWFM.2020.93829

Knowledge, Attitude and Practice of self-medication among Undergraduate Medical Students in Jeddah city, Saudi Arabia
[Abstract]
[pdf]
Reham Al-Jamea, Asseil Bossei, Hanan Al Zhrani, Faisal Bossei, Wed Faiz, Maaly Alqurashi, Hydi Ahmed
DOI: 10.5742MEWFM.2020.93830

What a low prevalence of diabetes mellitus between the most desired values of high density lipoproteins in the plasma
[Abstract]
[pdf]
Mehmet Rami Helvaci, Abdulrazak Abyad, Lesley Pocock
DOI: 10.5742MEWFM.2020.93831

Population and Community Studies

Evaluation of Postpartum Stress in Breastfeeding and Non-breastfeeding Mothers of Kathmandu, Nepal
[Abstract]
[pdf]
Kharel Sushil, Raut Binod, Mainalee Mandira
DOI: 10.5742MEWFM.2020.93832

Osteoporosis in Psoriasis and Psoriatic Arthritis Patients
[Abstract]
[pdf]
Jinan Q. Mohammed, Abdulsatar J. Mathkhor, Alaa H. Abed
DOI: 10.5742MEWFM.2020.93833

COVID-19 in Pakistan: A Grim-looking Trajectory
[Abstract]
[pdf]
Salman Tariq, Naveen Tariq, Waris Qidwai
DOI: 10.5742MEWFM.2020.93834

Review

Diabetes Management in Ramadan – A Clinical Review
[Abstract]
[pdf]
Jazeb Razaq, Shayaan Ahmed Saqib
DOI: 10.5742MEWFM.2020.93835

Parkinson’s Disease: An update on Pathophysiology, Epidemiology, Diagnosis and Management
Part 3 : Diagnosis , Symptoms, and Prognosis of Parkinson’s Disease
[Abstract]
[pdf]
Abdukrazak Abyad
DOI: 10.5742MEWFM.2020.93836

Case study

Haemoperitoneum in undiagnosed fundal placenta percreta in a third trimester pregnancy presented in labor: A case report
[Abstract]
[pdf]
Nansi Dari Alfayez, Taghreed Mohammed Aldajeh, Mohmmad Abed Al-rahaman AL-harasis, Ahmad Saad Kharabsheh, Khalil Abdel Wahhab Al-Tamimi
DOI: 10.5742MEWFM.2020.93837

Original Clinical Research

Post-stroke Delirium: Meta-analysis of Frequency
Saleha Al-Jadidi, Martin Cole, Alina Dyachenko, Antonio Ciampi
[Abstract]
[pdf]
DOI: 10.5742MEWFM.2020.93838



Middle East Quality Improvement Program
(MEQUIP QI&CPD)

Chief Editor -
Abdulrazak Abyad MD, MPH, MBA, AGSF, AFCHSE

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Publisher -
Lesley Pocock
medi+WORLD International
AUSTRALIA
Email
: lesleypocock@mediworld.com.au
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Editorial Enquiries -
abyad@cyberia.net.lb
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Advertising Enquiries -
lesleypocock@mediworld.com.au
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While all efforts have been made to ensure the accuracy of the information in this journal, opinions expressed are those of the authors and do not necessarily reflect the views of The Publishers, Editor or the Editorial Board. The publishers, Editor and Editorial Board cannot be held responsible for errors or any consequences arising from the use of information contained in this journal; or the views and opinions expressed. Publication of any advertisements does not constitute any endorsement by the Publishers and Editors of the product advertised.

The contents of this journal are copyright. Apart from any fair dealing for purposes of private study, research, criticism or review, as permitted under the Australian Copyright Act, no part of this program may be reproduced without the permission of the publisher.

September 2020 - Volume 18, Issue 9

H Syndrome: A Case Report


Corresponding author:
Dr. Zaid Mousa Ali (MD).
Email: ziadmousa613@gmail.com

Received: July 2020; Accepted: August 2020; Published: September 1, 2020. Citation: Fadi Farhan Ayyash,Abdalrazzaq Ahmmad Alyassen, Alia Mousa Alkhlaifat, Nasser Eyadeh Banikhaled. H Syndrome: A Case Report. World Family Medicine. 2020; 18(9): 129-132. DOI: 10.5742MEWFM.2020.93865

Abstract

H Syndrome is one of the rarest diseases in the world. It is an autosomal recessive (AR) disorder that occurs due to mutations in the solute carrier family 29.

H Syndrome is characterized by cutaneous hyperpigmentation, hearing loss, hypertrichosis, hypothyroidism, hepatomegaly, flexion contracture of the fingers and toes, short stature, hypertriglyceridemia, diabetes mellitus type one, and hypogonadism.

It was named H syndrome considering the fact that most of the clinical features start with the letter “H.”

Key words: H Syndrome, SLC29A3 gene, hypertrichosis.

 







 


 

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