Pfeiffer syndrome associated with clover-leaf skull: 1st case described in Venezuela
Martínez-Basalo, C.; Alvarez-Nava, F.; González-Inciarte, M.E.; González-Inciarte, L.; Delgado-Luengo, W.; Mora-La Cruz, E.; Peña, J.; Rodríguez, B.; Gómez-Polo, G.; Delgado-Luengo, J.
Investigacion Clinica 38(2): 95-106
1997
ISSN/ISBN: 0535-5133 PMID: 9296644 Document Number: 482834
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.