Fanconi's anaemia and unilateral thumb polydactyly--don't miss it
Insights
Early detection of Fanconi
Area of Science:
- Genetics
- Pediatrics
- Hematology
Background:
- Fanconi's anemia (FA) is a rare, inherited disorder.
- Patients often present with bone marrow failure, cancers, and physical abnormalities.
- Radial ray anomalies, including thumb duplication, can be associated with FA.
Purpose of the Study:
- To investigate the association between unilateral radial anomalies and Fanconi's anemia.
- To emphasize the importance of early diagnosis and genetic referral for children with radial ray anomalies.
Main Methods:
- Retrospective study of 202 children with radial ray anomalies over 20 years.
- Analysis of FA diagnosis in children with unilateral vs. bilateral thumb abnormalities.
Main Results:
- Seven children (3.5%) were diagnosed with Fanconi's anemia.
- Three children with unilateral anomalies (hypoplasia or duplication) were diagnosed late and died.
- Four children with bilateral thumb hypoplasia were diagnosed earlier.
Conclusions:
- Unilateral radial anomalies, including thumb duplication, are significant indicators of Fanconi's anemia.
- Early genetic referral and screening are crucial for timely diagnosis and improved outcomes in FA patients.
- Hand surgeons play a key role in identifying at-risk children for early intervention.
Abstract:
Fanconi's anaemia (FA) is a rare, life threatening inherited syndrome. Patients usually present late in the first decade of life with aplastic anaemia or acute myeloid leukaemia. FA children are also at high risk of solid organ tumours, anogenital squamous cancers, and endocrinopathies. These patients can present with unilateral radial abnormalities including thumb duplication. Hand surgeons can help achieve early diagnosis and improved survival in this group by early referral for screening. In a retrospective study of 202 children with radial ray anomalies seen over a 20 year period seven children had FA. Of these seven with FA, four had bilateral thumb hypoplasia and three had unilateral thumb anomalies--two unilateral thumb hypoplasias and one thumb duplication. The three children with unilateral anomalies were diagnosed late, presenting with bone marrow failure. All three have subsequently died following late bone marrow transplants. This study highlights the link between unilateral radial anomalies, including thumb duplication and FA and the importance of early genetic referral for diagnosis and surveillance.
Related Concept Videos
01:33Pleiotropy
01:29Cardiovascular System Abnormal Findings I: Inspection and Palpation
Abnormal findings observed during an inspection
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
02:30Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:24Renal Tubule and Collecting Duct
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
01:20Inborn Errors of Metabolism