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