Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl

Microcephalic primordial dwarfism is a group of disorders that result in growth restriction and multiple morbidities. The condition is subdivided into three categories, with microcephalic osteodysplastic primordial dwarfism type II (MOPDII) being the most prevalent. Globally, only a few cases have b...

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Autores principales: Busaleh, Fadi, Alnofaily, Haider, Al Ghadeer, Hussain A, Albahrani, Fatimah A, Alatiyyah, Hibah A, Alshaikh, Salwa B, Alhamrani, Ahmed M, Hassan, Walaa, Alatiya, Jumanah, Alnaqaa, Jawad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8697530/
https://www.ncbi.nlm.nih.gov/pubmed/34963845
http://dx.doi.org/10.7759/cureus.19829
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author Busaleh, Fadi
Alnofaily, Haider
Al Ghadeer, Hussain A
Albahrani, Fatimah A
Alatiyyah, Hibah A
Alshaikh, Salwa B
Alhamrani, Ahmed M
Hassan, Walaa
Alatiya, Jumanah
Alnaqaa, Jawad
author_facet Busaleh, Fadi
Alnofaily, Haider
Al Ghadeer, Hussain A
Albahrani, Fatimah A
Alatiyyah, Hibah A
Alshaikh, Salwa B
Alhamrani, Ahmed M
Hassan, Walaa
Alatiya, Jumanah
Alnaqaa, Jawad
author_sort Busaleh, Fadi
collection PubMed
description Microcephalic primordial dwarfism is a group of disorders that result in growth restriction and multiple morbidities. The condition is subdivided into three categories, with microcephalic osteodysplastic primordial dwarfism type II (MOPDII) being the most prevalent. Globally, only a few cases have been reported, with only available information about these disorders described in the literature. In this case report, we present the clinical findings seen in an infant with MOPDII in Saudi Arabia with associated glucose-6-phosphate dehydrogenase deficiency hemolytic anemia.
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spelling pubmed-86975302021-12-27 Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl Busaleh, Fadi Alnofaily, Haider Al Ghadeer, Hussain A Albahrani, Fatimah A Alatiyyah, Hibah A Alshaikh, Salwa B Alhamrani, Ahmed M Hassan, Walaa Alatiya, Jumanah Alnaqaa, Jawad Cureus Endocrinology/Diabetes/Metabolism Microcephalic primordial dwarfism is a group of disorders that result in growth restriction and multiple morbidities. The condition is subdivided into three categories, with microcephalic osteodysplastic primordial dwarfism type II (MOPDII) being the most prevalent. Globally, only a few cases have been reported, with only available information about these disorders described in the literature. In this case report, we present the clinical findings seen in an infant with MOPDII in Saudi Arabia with associated glucose-6-phosphate dehydrogenase deficiency hemolytic anemia. Cureus 2021-11-23 /pmc/articles/PMC8697530/ /pubmed/34963845 http://dx.doi.org/10.7759/cureus.19829 Text en Copyright © 2021, Busaleh et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Endocrinology/Diabetes/Metabolism
Busaleh, Fadi
Alnofaily, Haider
Al Ghadeer, Hussain A
Albahrani, Fatimah A
Alatiyyah, Hibah A
Alshaikh, Salwa B
Alhamrani, Ahmed M
Hassan, Walaa
Alatiya, Jumanah
Alnaqaa, Jawad
Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl
title Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl
title_full Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl
title_fullStr Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl
title_full_unstemmed Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl
title_short Microcephalic Osteodysplastic Primordial Dwarfism Type II With Associated Glucose-6-Phosphate Dehydrogenase Deficiency in a Saudi Girl
title_sort microcephalic osteodysplastic primordial dwarfism type ii with associated glucose-6-phosphate dehydrogenase deficiency in a saudi girl
topic Endocrinology/Diabetes/Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8697530/
https://www.ncbi.nlm.nih.gov/pubmed/34963845
http://dx.doi.org/10.7759/cureus.19829
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