[Post-traumatic diaphragmatic hernia. Report of a pediatric case]. / Hernia diafragmática post-traumática. Reporte de un caso pediátrico.

A case of traumatic rupture of the diaphragm in a seven year-old child is presented. The pathogenesis, clinical signs and symptoms, as well as diagnosis and treatment are discussed.

[Hypoplasia of the tibia, polydactyly, and triphalangeal thumb: 1st family described in Venezuela]. / Hipoplasia de tibia, polidactilia y pulgar trifalángico: primera familia descrita en Venezuela.

Werner in 1915, described a patient is characterized by a tibial bilateral aplasia or hypoplasia, polydactyly and absent thumbs. Autosomal dominant inheritance is demonstrated, with variable expressivity. The objective of this work is to describe a child with clinic and radiologic signs of Tibial Hypoplasia with Polydactyly. The genealogic study allowed us to suppose that the gene has a variable expressivity, since in the maternal branch, malformations such as syndactyly of hands, proximal implantation of thumbs and tibiae vara, have been found. The clinic, radiologic, and genetic aspects are discussed.

[Pfeiffer syndrome associated with clover-leaf skull: 1st case described in Venezuela]. / Síndrome de Pfeiffer asociado a cráneo en trébol: primer caso descrito en 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.