Ehlers-Danlos syndrome type IV: Keloidal plaques of the lower extremities, amniotic band limb deformity, and a new mutation

Journal of the American Academy of Dermatology

Volumn 56, Issue 2 SUPPL., 2007, Pages

  Burk, Cynthia J ^a   Aber, Cheryl ^a   Connelly, Elizabeth Alvarez ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNION BAND SYNDROME; ARTICLE; CASE REPORT; EHLERS DANLOS SYNDROME; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; JOINT HYPERMOBILITY; KELOID; LIMB DEFORMITY; PHYSICAL EXAMINATION; PREGNANCY COMPLICATION; PREMATURE LABOR; PRIORITY JOURNAL;

ADULT; AMNIOTIC BAND SYNDROME; COLLAGEN TYPE III; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; INFANT, NEWBORN; KELOID; LEG; LIMB DEFORMITIES, CONGENITAL; MUTATION;

EID: 33846081436     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2006.11.008     Document Type: Article

References (4)

1. Byers P.H., Holbrook K.A., McGillivray B., MacLeod P.M., and Lowry R.B. Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Hum Genet 47 (1979) 141-150
2. Byers P.H., Barsh G.S., and Holbrook K.A. Molecular mechanisms of connective tissue abnormalities in the Ehlers-Danlos syndrome. Coll Related Res 5 (1981) 475-489
3. Kroes H.Y., Pals G., and Van Essen A.J. Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. Clin Genet 63 (2003) 224-227
4. Lauwers G., Nevelsteen A., Daenen G., Lacroix H., Suy R., and Frijns J.-P. Ehlers-Danlos syndrome type IV: a heterogeneous disease. Ann Vasc Surg 11 (1997) 178-182