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Trisomy 13, home health-care and multidisciplinary approach: Case report.
Rev Paul Pediatr
October 2024
Faculdade Ciências Médicas de Minas Gerais, Post-Graduate Program in Health Sciences, Belo Horizonte, MG, Brazil.
Article Synopsis
- The objective of the text is to highlight the importance of recognizing and addressing Patau's syndrome through a case study of a 2-year-old patient receiving extensive Home Care services.
- The case describes a female patient who underwent a cesarean delivery due to restricted growth and was diagnosed with Patau's syndrome at birth, yet has survived longer than expected with specialized home-based care.
- The comments emphasize that a multidisciplinary care approach, including medical and psychological support, has led to positive outcomes and stresses the importance of support networks for families dealing with similar illnesses.*
Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.
J Clin Med
August 2024
Department of Speciality Disciplines, Faculty of Dental Medicine, "Titu Maiorescu" University, 031593 Bucharest, Romania.
Article Synopsis
- Cleft lip and palate are common congenital defects, and early diagnosis is crucial for effective management.
- This study examined 17 pregnancies with prenatally diagnosed cleft lip and palate, using methods like ultrasound and amniocentesis to analyze genetic factors.
- Out of 17 cases, 52.94% were associated with genetic syndromes, including Patau and Edwards syndromes, highlighting the importance of a comprehensive assessment for accurate diagnosis and treatment.
Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up.
Children (Basel)
June 2024
Department of Obstetrics and Gynecology, Semmelweis University, 1085 Budapest, Hungary.
Introduction: The corpus callosum is one of the five main cerebral commissures. It is key to combining sensory and motor functions. Its structure can be pathological (dysgenesis) or completely absent (agenesis).
View Article and Find Full Text PDFTrisomy 13 With Bilateral Congenital Anophthalmia: A Case Report.
Cureus
May 2024
Department of Neonatology and Neonatal Resuscitation, Mohammed VI University Hospital, Oujda, MAR.
Trisomy 13, also known as Patau syndrome, is a widely congenital anomaly syndrome characterized by microphthalmia, cleft lip, and palate, microcephaly with a sloping forehead, congenital heart disease, and polydactyly of the limbs. Patau syndrome is identified either prenatally or postnatally. Its survival rate is low, and most of the patients die even before their first year of life.
View Article and Find Full Text PDFTrisomy 13 with unusual histological features typically described in Beckwith-Wiedemann Spectrum.
Autops Case Rep
May 2024
Universidade de São Paulo (USP), Faculdade de Medicina, Hospital das Clínicas, Divisão de Anatomia Patológica, São Paulo, SP, Brasil.
Trisomy 13, known as Patau syndrome, is a common aneuploidy with a well-known clinical phenotype. This case report describes a trisomy 13 patient with unusual autopsy findings, including features resembling the Beckwith-Wiedemann Spectrum. Due to abnormalities of gestational ultrasounds, a prenatal karyotype of amniotic fluid cells was performed, which resulted in 47, XY+13.
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