Restrictive dermatopathy: A lethal congenital dermatosis and review of literature [2]

American Journal of Medical Genetics

Volumn 140 A, Issue 3, 2006, Pages 294-297

  Kulkarni, M L ^a,b   Shetty, K Sudarshan ^a   Chandrasekar, V K ^a   Preethi, M Kulkarni ^a  

^a J J M MEDICAL COLLEGE   (India)

^b NONE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ADHESION; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONGENITAL SKIN DISEASE; FETUS; HUMAN; LETHAL MUTANT; LETTER; MALE; PRIORITY JOURNAL; RESTRICTIVE DERMATOPATHY; SKIN DISEASE;

BIOPSY; COLLAGEN; FATAL OUTCOME; FETAL DISEASES; HUMANS; INFANT, NEWBORN; MALE; SKIN; SKIN DISEASES; STILLBIRTH;

EID: 31944452248     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20264     Document Type: Letter

References (17)

1. Happle R, Hamel BC, Stekhoven JH, Kollee LAA, Nijhuis JG, Anton-Lamprecht I, Steijlen PM. 1992. Restrictive dermopathy in two brothers. Arch Dermatol 128:232-235.
2. Jones KL. 1997. Smith's recognizable patterns of human malformation. Pennsylvania: WB Saunder's Company, pp 182-183.
3. Lowry RB, Machin GA, Morgan K, Mayok D, Marx L. 1985. Congenital contractures, edema, hyperkeratosis and intrauterine growth retardation: A fatal syndrome in Hutterite and Mennonite kindreds. Am J Med 22:531-543.
4. Mulder EJ, Beemer FA, Stoutenbeck P. 2001. Restrictive dermopathy & fetal behavior. Prenatal Diagn 21:581-585.
5. Paige DG, Lake BD, Bailey AZ, Ramani P, Harper JI. 1992. Restrictive dermopathy: A disorder of fibroblasts. Br J Dermatol 127:630-634.
6. Reed MH, Chudley AE, Kroeker M, Wilmot DM. 1993. Restrictive dermopathy. Pediatr Radiol 23:617-619.
7. Schnur RE, Ashmead J, Kelley RI. 1985. A lethal ichtyosis variant with athrogryposis, Am J Hum Genet 37: A76(abstr).
8. Sergi C, Poeschl J, Graf M, Linderkamp O. 2001. Restrictive dermopathy. Case report, subject review with Kaplan-Meier analysis & differential diagnosis of the lethal congenital contractural syndromes. Am J Perinatol 18:39-47.
9. Sherer DM, Metlay LA, Sinkin RA, Mongeon C, Lee RE, Woods JR. 1993. Congenital Icthyosis with restrictive dermopathy & Gaucher disease. Obstet Gynecol 81:842-844.
10. Sillevis Smitt JH, van-Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsans RFHJ, Oranje AP, Steijlen PM, Wesbyvan-Swaay E, Tamminga P, Breslau-Siderius EJ, Dutch Task Force on Genodermatology. 1998. Restrictive dermopathy: Report of 12 cases. Arch Dermatol 134:577-579.
11. Toriello HV. 1986. Restrictive dermopathy and report of another case. Am J Med Genet 24:625-629.
12. Van-der-Stege JG, Van-Straaten HL, Van-der-Wal AC, Van-Eyck J. 1997. Restrictive dermopathy and associated prenatal ultrasound findings: Case report. Ultrasound Obstet Gynecol 10:140-141.
13. Van-Hoestenberghe M, Legius E, Vandevoorde W, Eykens A. Jaeken J, Eggermont E, Devos R, De Wolf-Peeters C, Fryns JP. 1990. Restrictive dermopathy with the distinct morphological abnormalities. Am J Med Genet 36:297-300.
14. Verloes A, Mulliez N, Gonsales M, Laloux F, Hermanns-Le T, Pierard GE, Koulischer L. 1992. Restrictive dermopathy. A lethal form of arthrogryposis multiplex with skin and bone dysplasias: Three new cases and review of the literature. Am J Med Genet 43:539-547.
15. Welsh KM, Smoller BR, Holbrook KA, Johnston K. 1992. Restrictive dermopathy. Report of two affected siblings & a review of the literature. Arch Dermatol 128:228-231.
16. Wesche WA, Cutlan RT, Khare V, Chesney T, Shanklin D. 2001. Restrictive dermopathy: Report of a case & review of the literature. J Cutan Pathol 28:211-218.
17. Witt DR, Hayden MR, Holbrook KA, Dale BA, Baldwin VJ, Taylor GP. 1996. Restrictive dermopathy: A newly recognized autosomal recessive skin dysplasia. Am J Med Genet 24: 631-648.