Hypochondroplasia: an effected family presentation
Navarro González, J.; Cintado Bueno, C.; Tomás Pérez, M.; Cortada Ruiz-Azcárraga, A.
Anales Espanoles de Pediatria 10(2): 173-186
1977
ISSN/ISBN: 0302-4342 PMID: 301369 Document Number: 116414
A family suffering from hypochondroplasia in which father, mother and offspring are affected and in whose family tree various probably affected members are found on both sides, according to a pattern of autosomic dominant heritage is presented. The difficulty of diagnosis is discussed, not only in the first years of life but also later on, and in mild or moderate forms, which may in part explain the few cases reported in the literature.