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Spondylo-Thoracic Dysplasia: Survival, a Rare Occurrence.
Cureus
December 2024
Pediatric Medicine, Rajendra Institute of Medical Sciences, Ranchi, IND.
Article Synopsis
- Spondylo-thoracic dysplasia (STD) is a rare congenital condition that affects the vertebrae and thoracic area, often leading to serious respiratory issues and a high risk of early death in neonates.
- The text details the case of a one-day-old male newborn with severe respiratory distress and various physical anomalies, including scoliosis and rib deformities, identified through clinical examinations and imaging studies.
- The baby was diagnosed with STD, received conservative management, and survived past the neonatal period, offering insights into this particular variant of the condition.
Term Abdominal Pregnancy with a Live Fetus Incidentally Found During Cesarean Section: A Case Report.
Int Med Case Rep J
December 2024
Department of Obstetrics and Gynecology, Mekelle University, Mekelle, Tigray, Ethiopia.
Background: Abdominal pregnancy is a rare but, serious obstetric condition that has continued to pose difficulties in its diagnosis and management. The clinical presentation takes various forms, mostly nonspecific, leading to the delay in diagnosis and management. With a high degree of suspicion, the diagnosis can be made by an abdominal ultrasound particularly in the early trimesters.
View Article and Find Full Text PDFPrenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.
BMC Med Genomics
December 2024
Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China.
Background: The literature contains exceedingly limited reports on chromosome 10p15.3 microdeletions. In the present study, two cases of fetuses with pure terminal 10p15.
View Article and Find Full Text PDFECEL1 mutation in distal arthrogryposis type 5D: A case report.
Eur J Obstet Gynecol Reprod Biol
February 2025
Department of Neonatology, All India Institute of Medical Sciences, Bhubaneswar, Odisha 751019, India. Electronic address:
Background: Arthrogryposis multiplex congenita involves joint contractures across various body parts. Distal arthrogryposis type 5D (DA5D) is a rare, autosomal recessive subtype affecting distal extremities, with symptoms like knee extension contractures, camptodactyly, overriding fingers, ulnar wrist deviation, and scoliosis.
Case: A 24-year-old pregnant woman with a second-degree relative partner had a fetus showing increased nuchal translucency (3.
Anesthesia for Cesarean Delivery in a Patient With Spondylocostal Dysostosis: A Case Report.
A A Pract
December 2024
From the Liverpool Hospital, Liverpool, New South Wales, Australia.
Article Synopsis
- Spondylocostal dysostosis (SCD) is a genetic disorder leading to vertebrae and rib abnormalities, resulting in complications like kyphoscoliosis and lung issues.* -
- A case study discusses a pregnant woman with severe kyphoscoliosis and lung problems who safely underwent cesarean delivery using modified anesthesia techniques.* -
- The report highlights the importance of tailored anesthetic strategies for patients with SCD to ensure safety during surgical procedures.*
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