Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case

American Journal of Medical Genetics

Volumn 61, Issue 2, 1996, Pages 131-133

  Pina Neto, João M ^a   Defino, Helton L A ^a   Guedes, Marizilda L ^a   Jorge, Salim M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

autosomal recessive inheritance; bone dysplasia; dwarfism; joint laxity

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CRANIOFACIAL MALFORMATION; DWARFISM; FEMALE; HUMAN; JOINT LAXITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SPINE MALFORMATION; SPONDYLOEPIPHYSEAL DYSPLASIA;

EID: 0030058201     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19960111)61:2<131::aid-ajmg5>3.0.co;2-#     Document Type: Article

References (4)

1. Beighton P (1994): Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). J Med Genet 31:136-140.
2. Beighton P, Kozlowski K (1980): Spondyloepimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skeletal Radiol 5:205-212.
3. Beighton P, Gericke G, Kozlowski K, Grobler L (1984): The manifestations and natural history of Spondyloepimetaphyseal dysplasia with joint laxity. Clin Genet 26:308-317.
4. Torrington M, Beighton P (1991): The ancestry of Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. Clin Genet 39:210-213.