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Atypical presentation of amniotic band sequence
O A Bodamer1, E J Popek, C Bacino
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. obodamer@bcm.tmc.edu
Insights
Amniotic Band Sequence (ABS) is a rare birth defect causing external and sometimes internal abnormalities. Prognosis for ABS depends on the severity and if internal organs are affected.
Area of Science:
- Medical Genetics
- Developmental Biology
- Teratology
Background:
- Amniotic Band Sequence (ABS) is a disruption sequence characterized by diverse abnormalities due to prenatal disruption and deformation.
- The incidence of ABS varies, reported between 1:1,200 and 1:15,000 live births, with higher rates in stillborn infants.
Observation:
- The exact pathophysiology of ABS is debated, but understanding critical embryogenesis and organogenesis periods aids in elucidating its mechanisms.
- ABS abnormalities typically affect external structures, though internal malformations can occur.
- The presented case highlights the potential for associated internal malformations in ABS.
Findings:
- ABS involves a spectrum of abnormalities resulting from disruption during fetal development.
- While external malformations are common, internal anomalies can also be present.
- The severity of ABS and internal organ involvement significantly influences patient outcomes.
Implications:
- Further research into ABS pathophysiology is needed to refine understanding and management.
- Early diagnosis and assessment of internal organ involvement are crucial for accurate prognosis.
- Understanding ABS mechanisms can inform strategies for prevention and treatment of related birth defects.
Abstract:
Amniotic Band Sequence (ABS) is a disruption sequence that results in a variable group of abnormalities secondary to the disruption process and subsequent deformations. The incidence of ABS ranges from 1:1,200 to 1:15,000 live-born, and is even higher in still-born [Froster and Baird, 1993: Am J Med Genet 46:497-500]. The pathophysiology of ABS remains controversial, but a close look to critical periods of embryogenesis and/or organogenesis has helped in understanding pathogenetic mechanisms leading to the ABS disruption. The abnormalities are typically limited to external structures; however, associated internal malformations as seen in the case reported here may occur [Hunter and Carpenter, 1986: Am J Med Genet 24:691-700]. The prognosis depends on the severity of the abnormalities and the involvement of internal organs [Froster and Baird; 1993: Am J Med Genet 46:497-500; Levy, 1998: Ped Rev 19:249].
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