Rare case of Fanconi anemia associated with polydactly

alahmadi, Ghaida bakoar; Alharbi, Ibrahim; Alsahafi, Imtinan K.; Albarakati, Bilqis Ahmed; Aldor, Shahad M.

doi:10.15761/ccrr.1000368

Cited by 2 publications

(2 citation statements)

References 8 publications

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“…In a case by Sharma et al diagnosis was based on physical abnormalities, blood investigations, and bone marrow examination along with the use of a chromosomal breakage test for confirmation [ 8 ]. In a study by Alahmadi et al, the mean age of presentation of FA was seven to eight years with a male preponderance [ 9 ]. In our case, however, the patient is a female.…”

Section: Discussionmentioning

confidence: 99%

Diagnosing Fanconi Anemia: A Rare Case Report From Rural India

Malik

2024

Cureus

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Fanconi anemia is a rare but most prevalent form of inherited aplastic anemia, predominantly transmitted in an autosomal recessive manner, except for one X-linked variant. It arises from mutations in the genes across 16 different complementation groups that are crucial for DNA stability. It is marked by a wide range of congenital malformations, progressive pancytopenia, and an increased risk of both hematological malignancies and solid tumors. The congenital abnormalities associated with it can affect various organ systems, including the skeletal system, with significant variability among patients. One similar case has been reported here, which had the typical clinical features of FA. Due to varied phenotypic presentation, diagnosing FA can be challenging. A Chromosomal Breakage Study using mitomycin C (MMC) or diepoxybutane (DEB) is a distinctive cellular marker that aids in the diagnosis.

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Section: Discussionmentioning

confidence: 99%

Diagnosing Fanconi Anemia: A Rare Case Report From Rural India

Malik

2024

Cureus

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“…Ghaida Bakoar Alahmadi et al in their study, showed that the mean age of presentation of FA was about 7-8 years and it had a male predominance, which was similar to the present study. 7 The benchmark for diagnosing FA is on chromosomal breakage study for metaphase karyotyping; GTG banding, which shows abnormal chromosomal breakage syndrome with significant structural aberrations in most of the metaphases. Bushra Anam Ali et al studied Fanconi anaemia on chromosomal breakage and found abnormal chromosomal breakage syndrome with significant structural aberrations in most of the metaphases, which was seen in the present study.…”

Section: Discussionmentioning

confidence: 99%

Case Report: A rare case of Fanconi anaemia

Gajbhiye,

Lamture,

Gharde

et al. 2023

F1000Res

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Fanconi anaemia (FA) is autosomal recessive but can also be an autosomal dominant or X-linked recessive disease. In India, Fanconi anaemia is a very rarely seen disorder. Clinical findings in FA include pancytopenia, hyperpigmentation or hypopigmentation, skeletal anomalies, small stature or growth retardation, endocrine abnormalities, anal atresia, deafness, malignancy of head and neck, and it has a tendency to run in families. Diagnosis of FA can be made on clinical findings and laboratory examination. Recommended prenatal testing like chorionic villus sampling and amniocentesis. Androgen therapy and hematopoietic stem cell transplantation (HSCT) are treatment modalities recommended for FA. Follow-up of all diagnosed FA patients is essential throughout their lifetime. Having a healthcare team with diverse expertise is vital in preventing anemia and malignancy. A meticulous plan and unwavering support are also crucial. Outcomes of FA patients is desolate due to complications associated with it. Our aim of the study is to increase awareness among physicians about the presence of such rare diseases. Well-timed diagnosis with appropriate treatment is needed to prevent complication.

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Rare case of Fanconi anemia associated with polydactly

Cited by 2 publications

References 8 publications

Diagnosing Fanconi Anemia: A Rare Case Report From Rural India

Diagnosing Fanconi Anemia: A Rare Case Report From Rural India

Case Report: A rare case of Fanconi anaemia

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