Marfan Syndrome: A Study of a Nigerian Family and Review of Current Cardiovascular Management

Ekure, Ekanem N.; Onakoya, Adeola O; Oke, David Mautin

doi:10.4314/wajm.v28i1.48427

Cited by 5 publications

(3 citation statements)

References 16 publications

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“…Marfan syndrome is a rare disease but its prevalence in Africa is not known due in particular to the inadequacy of health facilities and qualified medical personnel in most rural areas. The few data available for sub-Saharan Africa (SSA) suggest that eye damage is the predominant cause of consultation [3][4][5][6]. In the present case, given the cardiac emergency, the ophthalmological examination could not be performed.…”

Section: Commentmentioning

confidence: 84%

Natural Evolution of a Marfan’s Syndrome in a Medical Desert in Sub-Saharan Africa: Case Report

Bakilo¹

2022

JQHE

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Marfan syndrome is an autosomal dominant connective tissue disorder associated with a mutation in the Fibrillin-1 (FBN1) gene on chromosome 15. It is a rare disease that affects one in 3,000 to 5,000 people. We describe here the case of a 35-year-old young man suffering from this syndrome and whose diagnosis was made at the terminal stage of the evolution in an environment lacking any means of diagnosis and care in sub-Saharan Africa.

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Section: Commentmentioning

confidence: 84%

Natural Evolution of a Marfan’s Syndrome in a Medical Desert in Sub-Saharan Africa: Case Report

Bakilo¹

2022

JQHE

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“…It has an autosomal dominant inheritance pattern caused by mutations in In fibrillin-1 gene ( FBN1 ) on chromosome 15q21. Fibrilin 1 is a structural component of the extracellular matrix ( Ekure et al, 2009 ; Sivasankari et al, 2017 ). Occasionally, Marfan syndrome can result from mutation of the TGFBR2 gene ( Bollero et al, 2017 ).…”

Section: Syndromic Lesions Associated With Craniofacial Complexmentioning

confidence: 99%

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Akintoye,

Adisa,

Okwuosa

et al. 2024

Bone Reports

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“…4 The prevalence in the Nigerian population is not known, however, a few cases have been reported in the country. [5][6][7][8] Non-traumatic ectopia lentis, may occur in isolation but it is commonly associated with syndromes such as Marfan syndrome, homocystinuria and Weill-Marchesani syndrome. 9 When it occurs in isolation it may be sporadic or familial.…”

Section: Introductionmentioning

confidence: 99%

Non-traumatic Ectopia Lentis in a Pediatric Ophthalmology Practice, Ibadan, Nigeria

Ugalahi

Onebunne

Olusanya

et al. 2021

Preprint

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PURPOSE: The aim of this study is to describe the clinical profile of patients with non-traumatic Ectopia lentis in a pediatric ophthalmology clinic in Ibadan, Nigeria.METHODS: The clinical records of children ≤ 16 years diagnosed with non- traumatic ectopia lentis at the Pediatric Ophthalmology Clinic, University College Hospital Ibadan, from May 1, 2015 to Dec 31, 2019 were retrospectively reviewed. Information on demographic data, family history, visual acuity (VA), mean refractive error (spherical equivalent), and management was retrieved.RESULTS: Clinical records of 25 patients were reviewed. The mean age was 8.9 (±3.41) years with a range of 2-15 years. Sixteen (64%) patients were males. All the patients had bilateral involvement. A positive family history of ectopia lentis was elicited in 6 (24%) patients. Thirteen (52%) patients had a Marfanoid habitus and superior displacement of the lens was observed in 26(52%) eyes. The presenting visual acuity was ≤ 6/36 in 38 (76%) eyes. The spherical equivalent of the refractive errors ranged from -20.00DS to +13.25DS. Twenty (40%) eyes underwent surgery within the period of the study and the best corrected postoperative visual acuity improved by 2 or more lines in 12 (60%) of operated eyes.CONCLUSION: Severe visual morbidity was common in this cohort of patients with Ectopia lentis in our practice. Treatment provided some improvement in vision which highlights the need to encourage early presentation for care. Detailed family history is important as a few of the patients were diagnosed on our request to examine siblings with visual impairment.

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Marfan Syndrome: A Study of a Nigerian Family and Review of Current Cardiovascular Management

Cited by 5 publications

References 16 publications

Natural Evolution of a Marfan’s Syndrome in a Medical Desert in Sub-Saharan Africa: Case Report

Natural Evolution of a Marfan’s Syndrome in a Medical Desert in Sub-Saharan Africa: Case Report

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Non-traumatic Ectopia Lentis in a Pediatric Ophthalmology Practice, Ibadan, Nigeria

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