Case Report
JBCGenetics. 2018; 1(1): 37-39

Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes

Authors: AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih.

View PDF HTML Fulltext DOI: 10.24911/JBCGenetics/183-1530040885

Abstract

Background: Microcephalic osteodysplastic primordial dwarfism (MOPD) is a wide spectrum of monogenic disorders with several subtypes and numerous genes have been identified. It is characterized by the significant pre- and post-natal growth retardation, severe short stature (dwarfism), and microcephaly. MOPD type II (MIM# 210720) is a recessive disease, which is the first mapped MOPD caused by mutations in PCNT (605925) gene encoding pericentrin protein, in chromosome 21q22. In contrast, Klinefelter syndrome (KS; XXY syndrome) is a known numerical chromosomal disorder that is considered the most frequent sex chromosomal with no or minimal physical features before puberty. Affected children may have tall stature and subtle intellectual disabilities, speech delay, and evolving psychosocial dysfunctions. Case Presentation: We present a 3-year-old dwarf child with the facial and physical finding of MOPD. Interestingly, his karyotype revealed 47;XXY abnormality. While searching for the main cause for his dwarf phenotype, gene testing for PCNT gene showed pathogenic homozygous mutation with both parents proved to be heterozygous for the same mutation. Conclusion: While the karyotype proved the 47;XXY syndrome, the clinical phenotype of MOPD caused by PCNT leads his physical array and dominated the patient's facial profile. Early diagnosis for both syndromes is essential in order to offer early treatment for the complications or to provide an appropriate counseling and intervention if needed.

Keywords:   Intrauterine growth retardation; IUGR; primordial dwarfism; MOPD; PCNT; Klinefelter syndrome; developmental delay; 47, XXY.


Request permissions

If you wish to reuse any part or all of this article please contact the copyright holder, contact@jbcgenetics.com.

Copyright ©2018. All Rights Reserved.

Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes


Authors
AlAnoud Al-Jarbou
Section of Medical Genetics, Department of Pediatrics, Subspecialties, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Afnan Al-Turki
Section of Medical Genetics, Department of Pediatrics, Subspecialties, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles

Suha Tashkandi
Department of Cytogenetic and Molecular, Clinical Pathology, King Fahad Medical City, Riyadh. Saudi Arabia
PubMed articlesGoogle scholar articles

Eissa A Faqeih
Section of Medical Genetics, Department of Pediatrics, Subspecialties, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
PubMed articlesGoogle scholar articles


Correspondence to:
Eissa A Faqeih. Section of Medical Genetics, Department of Pediatrics, Subspecialties, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia; efaqeih@kfmc.med.sa

Publication history
Received 13 Oct 2017
Revised 20 Nov 2017
Accepted 06 Dec 2017
Published in print 01 Jan 2018

How to cite this article

Pubmed Style

Al-Jarbou A, Al-Turki A, Tashkandi S, Faqeih EA. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. JBCGenetics. 2018; 1(1): 37-39. doi:10.24911/JBCGenetics/183-1530040885


Web Style

Al-Jarbou A, Al-Turki A, Tashkandi S, Faqeih EA. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. https://www.jbcgenetics.com//?mno=302642209 [Access: December 13, 2018]. doi:10.24911/JBCGenetics/183-1530040885


AMA (American Medical Association) Style

Al-Jarbou A, Al-Turki A, Tashkandi S, Faqeih EA. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. JBCGenetics. 2018; 1(1): 37-39. doi:10.24911/JBCGenetics/183-1530040885


Vancouver/ICMJE Style

Al-Jarbou A, Al-Turki A, Tashkandi S, Faqeih EA. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. JBCGenetics. (2018), [cited December 13, 2018]; 1(1): 37-39. doi:10.24911/JBCGenetics/183-1530040885


Harvard Style

Al-Jarbou, A., Al-Turki, . A., Tashkandi, . S. & Faqeih, . E. A. (2018) Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. JBCGenetics, 1 (1), 37-39. doi:10.24911/JBCGenetics/183-1530040885


Turabian Style

Al-Jarbou, AlAnoud, Afnan Al-Turki, Suha Tashkandi, and Eissa A. Faqeih. 2018. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. Journal of Biochemical and Clinical Genetics, 1 (1), 37-39. doi:10.24911/JBCGenetics/183-1530040885


Chicago Style

Al-Jarbou, AlAnoud, Afnan Al-Turki, Suha Tashkandi, and Eissa A. Faqeih. "Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes." Journal of Biochemical and Clinical Genetics 1 (2018), 37-39. doi:10.24911/JBCGenetics/183-1530040885


MLA (The Modern Language Association) Style

Al-Jarbou, AlAnoud, Afnan Al-Turki, Suha Tashkandi, and Eissa A. Faqeih. "Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes." Journal of Biochemical and Clinical Genetics 1.1 (2018), 37-39. Print. doi:10.24911/JBCGenetics/183-1530040885


APA (American Psychological Association) Style

Al-Jarbou, A., Al-Turki, . A., Tashkandi, . S. & Faqeih, . E. A. (2018) Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. Journal of Biochemical and Clinical Genetics, 1 (1), 37-39. doi:10.24911/JBCGenetics/183-1530040885


Click the icon of the social media platform on which you would like to share this article.

Viewed: 218
Downloaded: 73
Cited: 0