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  • Title: [Fatal nanism: 3 different entities].
    Author: Escrivá Tomás P, Clemente Yago F, López Peña LF, Cidras Pidre M, Orts Serrano F, Serrano Martínez JL, Jiménez Cobo B.
    Journal: An Esp Pediatr; 1991 Apr; 34(4):305-9. PubMed ID: 2069281.
    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.
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