Related Experiment Video
Updated: Jul 5, 2025
10:23
Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
2.8K
Complex Craniosynostosis in Pitt-Hopkins Syndrome: Case Report in Twins
José Roberto Tude Melo1,2, Ana Rita de Luna Freire Peixoto3, Danilo Marden de Lima Souza3
1D'Or Institute for Research and Education (IDOR), Salvador da Bahia, Brazil.
Pediatric Neurosurgery
|January 21, 2024
Summary
Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder. This report details two infants with PTHS and complex craniosynostosis, suggesting a potential link requiring further investigation.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by TCF4 gene variations, characterized by neurodevelopmental issues and craniofacial anomalies.
- This study focuses on two twin infants diagnosed with PTHS.
Observation:
- Both infants exhibited craniofacial asymmetry, metopic crest, and cranial deformity.
- Computed tomography revealed premature fusion of coronal and metopic sutures (complex craniosynostosis) in both twins.
- Surgical craniofacial reconstruction was successfully performed at nine months of age.
Findings:
- This is the first reported case of complex craniosynostosis in infants with Pitt-Hopkins syndrome.
- Genetic confirmation of PTHS was achieved through TCF4 gene variant identification via buccal swab DNA analysis.
Implications:
- The co-occurrence of PTHS and complex craniosynostosis may indicate a specific association.
- Further research is necessary to determine if this link is statistically significant or coincidental.
- This case highlights the importance of comprehensive evaluation in patients with rare genetic syndromes.
Related Concept Videos
01:22Sutures of the Skull
6.8K
The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
6.8K
01:33Pleiotropy
40.5K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.5K