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A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
J Med Case Rep 2014; 8:191JM

Abstract

INTRODUCTION

Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100 cm, a post-pubertal head circumference of 40 cm or less, mild mental retardation, an outgoing personality and bone dysplasia.

CASE PRESENTATION

We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara. Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C>T, evidencing a new mutation not reported in the literature for microcephalic osteodysplastic primordial dwarfism.

CONCLUSION

The new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient. Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases.

Authors+Show Affiliations

Faculty of Health, Universidad Icesi, Research Centre on Congenital Anomalies and Rare Diseases (CIACER), Calle 18 No, 122-135, bloque L, Oficina: 5025A Pance, Cali, Colombia. hmpachajoa@icesi.edu.co.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24928221

Citation

Pachajoa, Harry, et al. "A New Mutation of the PCNT Gene in a Colombian Patient With Microcephalic Osteodysplastic Primordial Dwarfism Type II: a Case Report." Journal of Medical Case Reports, vol. 8, 2014, p. 191.
Pachajoa H, Ruiz-Botero F, Isaza C. A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. J Med Case Rep. 2014;8:191.
Pachajoa, H., Ruiz-Botero, F., & Isaza, C. (2014). A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. Journal of Medical Case Reports, 8, p. 191. doi:10.1186/1752-1947-8-191.
Pachajoa H, Ruiz-Botero F, Isaza C. A New Mutation of the PCNT Gene in a Colombian Patient With Microcephalic Osteodysplastic Primordial Dwarfism Type II: a Case Report. J Med Case Rep. 2014 Jun 13;8:191. PubMed PMID: 24928221.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. AU - Pachajoa,Harry, AU - Ruiz-Botero,Felipe, AU - Isaza,Carolina, Y1 - 2014/06/13/ PY - 2014/01/08/received PY - 2014/02/27/accepted PY - 2014/6/15/entrez PY - 2014/6/15/pubmed PY - 2015/1/18/medline SP - 191 EP - 191 JF - Journal of medical case reports JO - J Med Case Rep VL - 8 N2 - INTRODUCTION: Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100 cm, a post-pubertal head circumference of 40 cm or less, mild mental retardation, an outgoing personality and bone dysplasia. CASE PRESENTATION: We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara. Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C>T, evidencing a new mutation not reported in the literature for microcephalic osteodysplastic primordial dwarfism. CONCLUSION: The new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient. Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases. SN - 1752-1947 UR - https://www.unboundmedicine.com/medline/citation/24928221/A_new_mutation_of_the_PCNT_gene_in_a_Colombian_patient_with_microcephalic_osteodysplastic_primordial_dwarfism_type_II:_a_case_report_ L2 - https://jmedicalcasereports.biomedcentral.com/articles/10.1186/1752-1947-8-191 DB - PRIME DP - Unbound Medicine ER -