title: [Pfeiffer syndrome associated with clover-leaf skull: 1st case described in Venezuela].
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.
authors.affiliation: Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Venezuela.
authors.forename: C
authors.initials: C
authors.lastname: Martínez-Basalo
authors.forename: F
authors.initials: F
authors.lastname: Alvarez-Nava
authors.forename: M E
authors.initials: ME
authors.lastname: González-Inciarte
authors.forename: L
authors.initials: L
authors.lastname: González-Inciarte
authors.forename: W
authors.initials: W
authors.lastname: Delgado-Luengo
authors.forename: E
authors.initials: E
authors.lastname: Mora-La Cruz
authors.forename: J
authors.initials: J
authors.lastname: Peña
authors.forename: B
authors.initials: B
authors.lastname: Rodríguez
authors.forename: G
authors.initials: G
authors.lastname: Gómez-Polo
authors.forename: J
authors.initials: J
authors.lastname: Delgado-Luengo
mesh_terms: D000168:Acrocephalosyndactylia / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D014687:Venezuela