Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis

American Journal of Medical Genetics, Part A

Volumn 161, Issue 4, 2013, Pages 737-744

  Hall, Judith G ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Arthrogryposis; Developmental delay; Dimple; Indentation; Intellectual disability; Multiple congenital contractures; Pretibia; Shin; Shin dimple; Tibial crease; Vertical crease

Indexed keywords

ADOLESCENT; ADULT; ARTHROGRYPOSIS; ARTICLE; CHILD; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FAMILY; FEMALE; FLEXION CONTRACTURE; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; SHIN DIMPLE; TIBIA;

ADOLESCENT; ADULT; ARTHROGRYPOSIS; CHILD; FAMILY; FEMALE; HUMANS; INFANT; MALE; PEDIGREE; PHENOTYPE; RANGE OF MOTION, ARTICULAR; TIBIA; YOUNG ADULT;

EID: 84875548263     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35788     Document Type: Article

References (5)

1. Hall JG. 2005. Distal arthrogryposis in two sisters born to different fathers [Hwu et al., 2004: Am J Med Genet 125A: 100-101]. Am J Med Genet Part A 136A:415.
2. Hall JG. in press. Arthrogryposes (multiple congenital contractures). In: Rimoin DL, Pyeritz RE, Korf BR, editors. Emery and Rimoin's principle and practice of medical genetics. New York (NY): Churchill Livingstone. 6e.
3. Hall JG, Reed SD, Scott CI, Rogers JG, Jones KL, Camarano A. 1982. Three distinct types of X-linked arthrogryposis seen in 6 families. Clin Genet 21:81-97.
4. Hwu WL, Chien YH, Hsu CC. 2004. Distal arthrogryposis in two sisters born to different fathers. Am J Med Genet Part A 125A:100-101.
5. Stoll C, Alembik Y, Repetto M. 1998. Congenital bilateral fibular deficiency with facial dysmorphia, brachydactyly and mental retardation in a girl. Genet Couns 9:147-152.