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[Fatal nanism: 3 different entities]
P Escrivá Tomás1, F Clemente Yago, L F López Peña
1Sección de Neonatología, Hospital General de Alicante.
Anales Espanoles De Pediatria
|April 1, 1991
Abstract:
Three cases of congenital dwarfism are presented. All of them are lethal and represent the three better known nonviable nosologic entities: Achondrogenesis I, Achondrogesis II and Thanatophoric dwarfism. According to clinical features and radiologic data it is possible to approach the diagnosis accurately. We comment genetic, clinic, radiologic and histologic aspects of these processes. It is important to establish a differential diagnosis as these entities have different genetic basis, what influences genetic counsel.