Related Experiment Videos
Patau syndrome with a long survival. A case report
A C Duarte1, A I C Menezes, E S Devens
1Serviço de Aconselhamento Genético do Departamento de Zoologia e Genética, Instituto de Biologia, Universidade Federal de Pelotas, RS, Brasil.
Insights
This case study details a female infant with Trisomy 13, who survived to 28 months. Despite severe developmental delays, physiotherapy and recreation led to noticeable improvements in her condition.
Area of Science:
- Genetics
- Pediatrics
- Clinical Case Study
Background:
- Trisomy 13 (Patau syndrome) is a severe chromosomal disorder with a high mortality rate, typically affecting infants within the first year of life.
- The condition is characterized by a wide range of congenital anomalies affecting multiple organ systems.
Observation:
- A 28-month-old female presented with Trisomy 13, exhibiting typical features such as polydactyly, clubfoot, ocular hypertelorism, and cardiomegaly.
- The patient experienced significant neuropsychomotor developmental retardation from birth.
- Despite the severity of Trisomy 13, the child demonstrated notable improvements following physiotherapy and recreational therapy.
Findings:
- This case highlights an unusual survival of a child with Trisomy 13 beyond the typical infant mortality period.
- The report documents the physical and developmental trajectory of the patient, including anthropometric measurements up to 28 months.
- The study underscores the potential benefits of early intervention and supportive therapies in managing developmental challenges associated with Trisomy 13.
Implications:
- This case contributes to the understanding of the phenotypic variability and long-term prognosis in Trisomy 13.
- It emphasizes the importance of multidisciplinary care, including physical and recreational therapies, in improving the quality of life for children with chromosomal abnormalities.
- Further research into the factors influencing survival and developmental outcomes in Trisomy 13 is warranted.
Abstract:
Trisomy 13 is a clinically severe entity; 85% of the patients do not survive beyond one year, and most children die before completing six months of age. We report a female child, 28 months old, white, the fourth child of a non-consanguineous couple, who presented trisomy 13. The child was born at term, from a vaginal delivery, weighing 2600 g. At birth, she was cyanotic, icteric, spastic, and cried weakly. The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas distributed throughout the body, cardiomegaly, and perimembranous inter-ventricular communication. There was no cleft lip or palate. On physical examination at 18 months old, the child weighed 6,900 g, had a cephalic perimeter of 41 cm, a thoracic perimeter of 43 cm and was 76 cm tall. At 28 months, she weighed 10,760 g and was 88.5 cm tall. Neuropsychomotor development retardation was evident from birth and, according to the psychologist and the social assistant of APAE (Handicapped Parents and Friends Association) in Canguçu, Rio Grande do Sul, there was a noticeable improvement after physiotherapy and recreational sessions.
