JBCGenetics |

Case Report

Volume: 1 | Issue: 1 | Published: Jan 01, 1970 | Pages: 37 - 39 | DOI: 10.24911/JBCGenetics/183-1530040885

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

Authors

AlAnoud Al-Jarbou

Section of Medical Genetics, Department of Pediatrics, Subspecialties, Children&apos;s Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia

Afnan Al-Turki

Section of Medical Genetics, Department of Pediatrics, Subspecialties, Children&apos;s Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia

Suha Tashkandi

Department of Cytogenetic and Molecular, Clinical Pathology, King Fahad Medical City, Riyadh. Saudi Arabia

Eissa A. Faqeih

Section of Medical Genetics, Department of Pediatrics, Subspecialties, Children&apos;s Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia

Publication History

Received: October 13, 2017

Revised: November 20, 2017

Accepted: December 06, 2017

Published: January 01, 1970

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

Pubmed Style

AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. JBC Genetics. 1970; 01 (January 1970): 37-39. doi:10.24911/JBCGenetics/183-1530040885

Web Style

AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. https://www.jbcgenetics.com/index.php/articles/2017 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1530040885

AMA (American Medical Association) Style

Vancouver/ICMJE Style

AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih. Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. JBC Genetics. (1970), [cited April 27, 2025]; 01 (January 1970): 37-39. doi:10.24911/JBCGenetics/183-1530040885

Harvard Style

AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih (1970) Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. JBC Genetics, 01 (January 1970): 37-39. doi:10.24911/JBCGenetics/183-1530040885

Chicago Style

AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih. "Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes." 01 (1970), 37-39. doi:10.24911/JBCGenetics/183-1530040885

MLA (The Modern Language Association) Style

AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih. "Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes." 01.January 1970 (1970), 37-39. Print. doi:10.24911/JBCGenetics/183-1530040885

APA (American Psychological Association) Style

AlAnoud Al-Jarbou, Afnan Al-Turki, Suha Tashkandi, Eissa A. Faqeih (1970) Microcephalic osteodysplastic primordial dwarfism type II and Klinefelter syndrome: report of two competing growth syndromes. , 01 (January 1970), 37-39. doi:10.24911/JBCGenetics/183-1530040885