|1.||Cormier-Daire, V: 1 article (09/2004)|
|2.||Geneviève, D: 1 article (09/2004)|
|3.||Le Merrer, M: 1 article (09/2004)|
|4.||Munnich, A: 1 article (09/2004)|
|5.||Franceschini, D: 1 article (12/2001)|
|6.||Biroli, E: 1 article (12/2001)|
|7.||Guala, A: 1 article (12/2001)|
|8.||Botta, G: 1 article (12/2001)|
|9.||Di Cara, G: 1 article (12/2001)|
|10.||Bassini, P: 1 article (12/2001)|
|1.||Developmental Bone Diseases (Bone Dysplasia)
04/01/2000 - "The radiographic features were not consistent with the diagnosis of campomelic dysplasia, kyphomelic dysplasia or other skeletal dysplasias characterized by bowing and shortening of the long bones. "
05/01/1997 - "Hypoplasia of the body of the scapula, which is characteristic for campomelic dysplasia but not for kyphomelic dysplasia, is also present in Antley-Bixler syndrome. "
11/15/1993 - "A differential diagnosis including campomelic dysplasia, kyphomelic dysplasia, hypophosphatasia, Grant syndrome, and osteogenesis imperfecta, and a discussion of potential mechanisms of long bone bowing are presented. "
12/01/2001 - "Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and bowing of the limbs, narrow chest, 11 ribs and metaphyseal flaring. "
04/01/1990 - "Designated kyphomelic dysplasia, the condition is a short limbed dwarfism characterised by very short angulated femora, variable bowing of other long bones, irregular, flared metaphyses, restricted joint mobility, a small thorax and short trunk, a normal cranium and psychomotor development, and a tendency for the bowing to improve with age in survivors. "
|4.||Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
|5.||Osteogenesis Imperfecta (Lobstein Disease)