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

AlAnoud Al-Jarbou; Afnan Al-Turki; Suha Tashkandi; Eissa A. Faqeih

doi:10.24911/JBCGenetics/183-1530040885

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

doi: 10.24911/JBCGenetics/183-1530040885

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

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

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.

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

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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: November 14, 2024]. 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 November 14, 2024]; 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

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