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[Pfeiffer syndrome associated with clover-leaf skull: 1st case described in Venezuela]
C Martínez-Basalo1, F Alvarez-Nava, M E González-Inciarte
1Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Venezuela.
Insights
Pfeiffer syndrome, a craniosynostosis disorder, presents with distinctive hand and foot anomalies. This case study details a male infant diagnosed with Pfeiffer syndrome subtype 2, highlighting clinical and genetic findings.
Area of Science:
- Medical Genetics
- Pediatrics
- Clinical Dysmorphology
Background:
- Pfeiffer syndrome is a rare genetic disorder characterized by craniosynostosis and limb abnormalities.
- It is classified within the acrocephalosyndactyly (ACS) syndromes.
- Pfeiffer syndrome subtype 2 involves severe craniosynostosis and characteristic hand and foot malformations.
Abstract:
In 1964, Pfeiffer described a syndrome consisting of craniosynostosis, broad thumbs, broad great toes, and partial soft tissue syndactyly of the hands and feet. It belongs to acrocephalosyndactyly syndromes. We describe a male baby product of an eighth full-term uncomplicated uncontrolled pregnancy, mother and father normal and unrelated, 32 and 50 years old, respectively. He had all diagnostic and prognostic criteria of Subtype 2 Pfeiffer's Syndrome. The clinical, radiological, tomographic, and genetic aspects are discussed.