Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: Autosomal recessive entity?

American Journal of Medical Genetics

Volumn 77, Issue 1, 1998, Pages 28-30

  Kilic, Ilknur ^a   Kilic, B Alper ^a   Ergin, Hacer ^a   Aygün, Meral Günay ^b   Aksit, M Arif ^a  

^a PAMUKKALE UNIVERSITY   (Turkey)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Camptodactyly; Fibrosis of the medial rectus; Myopia; Ptosis

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAMPTODACTYLY; CASE REPORT; CONSANGUINITY; EXTRAOCULAR MUSCLE; FEMALE; HUMAN; MUSCLE BIOPSY; MYOFIBROSIS; MYOPIA; PRIORITY JOURNAL; PTOSIS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CONSANGUINITY; CONTRACTURE; FEMALE; FIBROSIS; FINGERS; GENES, RECESSIVE; HUMANS; MALE; MYOPIA; OCULOMOTOR MUSCLES; SYNDROME;

RAPHIA FRATER; RECTUS;

EID: 0032574632     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980428)77:1<28::AID-AJMG7>3.0.CO;2-H     Document Type: Article

References (7)

1. Cantú JM, Rivera H, Nazara Z, Rojas Q, Hernandez A, Garcia-Cruz D (1981): Guadalajara camptodactyly syndrome: A distinct probably autosomal recessive disorder. Clin Genet 18:153-159.
2. Figuera LE, Ramirez-Duenas ML, Garcia-Cruz D, Villar V, Cantu JM (1993): Guadalajara camptodactyly syndrome type I. A corroborative family. Clin Genet 43:11-15.
3. Goodman RM, Katznelson-BatMiriam M, Hertz M, Katznelson A (1976): Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome. J Med Genet 13:136-141.
4. Lai MMR, Tettenborn MA, Hall JG, Smith LJ, Berry AC (1991): A new form of autosomal dominant arthrogryposis. J Med Genet 28:701-703.
5. Rozin MM, Hertz M, Goodman RM (1984): A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: A case report and review of syndromes with campodactyly. Clin Genet 26:342-355.
6. Schrander-Stumpel CTRM, Höweler CJ, Reekers BA, De Smet N, Hall JG, Fryns JP (1993): Arthrogryposis, ophthalmoplegia, and retinopathy: Confirmation of a new type of arthrogryposis. J Med Genet 30:78-80.
7. Zeither JH, Boniuk M (1989): Ophthalmologic findings associated with arthrogryposis multiplex congenita: Case report and review of the literature. J Pediatr Ophthalmol Strabismus 26:204-208.