Holoprosencephaly in Patau Syndrome
Amanda de Souza Schlosser1, Giovani José Coury Costa1, Henrique Salmazo da Silva1
1Universidade Católica de Brasília, Brasília, DF, Brazil.
Summary
Patau syndrome, a genetic disorder from trisomy 13, can include holoprosencephaly, a brain malformation. This case highlights the radiological and neonatal signs associated with both conditions.
Area of Science:
- Genetics
- Developmental Biology
- Neonatal Medicine
Background:
- Patau syndrome, caused by trisomy 13, is a severe genetic disorder.
- Holoprosencephaly is a congenital brain malformation with varying degrees of severity.
- The co-occurrence of Patau syndrome and holoprosencephaly presents significant diagnostic and prognostic challenges.
Observation:
- A case report details a female infant diagnosed with trisomy 13 and semilobar holoprosencephaly.
- The infant exhibited thalamic fusion and a single cerebral ventricle.
- Additional congenital anomalies were noted, contributing to a poor prognosis.
Findings:
- Radiological, gestational, and perinatal signs of Patau syndrome and semilobar holoprosencephaly were evaluated.
- Neonatal signs associated with this combined pathology were documented.
- The study reports on the specific association between trisomy 13 and semilobar holoprosencephaly in this patient.
Implications:
- Understanding the radiological and neonatal manifestations is crucial for accurate diagnosis and management.
- The findings contribute to the knowledge base regarding the spectrum of Patau syndrome and its frequent association with brain malformations.
- This case underscores the complexity and severity of combined trisomy 13 and holoprosencephaly.
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