Chondrodysplasia punctata stemming from maternal lupus erythematosus

American Journal of Medical Genetics

Volumn 83, Issue 5, 1999, Pages 397-401

  Kelly, Thaddeus E ^a,b   Alford, Bennett A ^a   Greer, Kenneth M ^a  

^a UNIVERSITY OF VIRGINIA   (United States)

^b UNIVERSITY OF VIRGINIA HEALTH SYSTEM   (United States)

Author keywords

Chondrodysplasia punctata; Lupus erythematosus; Stippled epiphyses

Indexed keywords

AUTOANTIBODY;

ARTICLE; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; COGNITION; DIFFERENTIAL DIAGNOSIS; EPIPHYSIS DISEASE; FOLLOW UP; HUMAN; INFANT; MALE; PRIORITY JOURNAL; RADIOGRAPHY; RASH; SHORT STATURE; SYSTEMIC LUPUS ERYTHEMATOSUS; TERATOGENESIS;

ADULT; CHILD, PRESCHOOL; CHONDRODYSPLASIA PUNCTATA; DIAGNOSIS, DIFFERENTIAL; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; PREGNANCY; PREGNANCY COMPLICATIONS;

EID: 0033597371     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990423)83:5<397::AID-AJMG11>3.0.CO;2-Y     Document Type: Article

References (20)

1. Austin-Ward E, Castillo S, Cuchacovich M, Espinoza A, Cofre-Beca J, Gonzalez S, Solivelles X, Bloomfield J. 1998. Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations. J Med Genet 35:695-697.
2. Barr DGD, Kirk JM, Al Howasi M, Wanders RJA, Schutgens RBH. 1993. Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. Arch Dis Child 68:415-417.
3. Costa T, Tiller G, Chitayat D, Silverman E. Maternal systemic lupus erythematosus (SLE) and chondrodysplasia punctata in two infants: coincidence or association? First Meeting of Bone Dysplasia Society, Chicago, June 1993.
4. Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G. 1998. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Am J Hum Genet 62:562-572.
5. Elcioglu N, Hall CM. 1998. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence? J Med Genet 35:690-694.
6. Franca HL, Weston WL, Peebles C, Forstot SL, Phanuphak P. 1981. Autoantibodies directed against sicca syndrome antigens in the neonatal lupus syndrome. J Am Acad Dermatol 4:67-72.
7. Kalter DC, Atherton DJ, Clayton PT. 1989. X-linked dominant Conradi-Hünermann syndrome presenting as a congenital erythroderma. J Am Acad Dermatol 21:248-256.
8. Kephart DC, Hood AF, Provost TT. 1981. Neonatal lupus erythematosus: new serologic findings. J Invest Dermatol 77:331-333.
9. Mansour S, Liberman D, Young I. 1994. Brachytelephalangic chondrodysplasia punctata in an extremely premature infant. Am J Med Genet 53:81-82.
10. McCauliffe DP. 1995. Neonatal lupus erythematosus: a transplacentally acquired autoimmune disorder. Semin Dermatol 14:47-53.
11. McCuiston CH, Schoch EP. 1954. Possible discoid lupus erythematosus in a newborn infant: report of a case with subsequent development of systemic lupus erythematosus in mother. Arch Dermatol 70:782-785.
12. Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek ALMA, Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJA, Distel B. 1997. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. Nature Genet 15:377-380.
13. Ofman R, Hettema EH, Hogenhout EM, Caruso U, Muijsers AO, Wanders RJA.1998. Acyl-CoA: dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet 7:847-853.
14. Pauli RM, Lian JB, Mosher DF, Suttie JW. 1987. Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: clues to the teratogenicity of coumadin derivatives. Am J Hum Genet 41:566-583,
15. Purdue PE, Zhang JW, Skoneczny M, Lararow PB. 1997. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor: Nature Genet 15:381-384.
16. Shaul W, Emery H, Hall JG. 1975. Chondrodysplasia punctata and maternal warfarin use during pregnancy. Am J Dis Child 129:360-362.
17. Sheffield LJ, Danks EM, Mayne V, Hutchinson LA. 1976. Chondrodysplasia punctata: 23 cases of a mild and relatively common variety. J Pediatr 89:916-923.
18. 1 RNP positive neonatal lupus erythematosus: association with anti-La antibodies? Br J Dermatol 1995;132:520-526.
19. Solomon BA, Laude TA, Shalita AR. 1995. Neonatal lupus erythematosus: discordant disease expression of U RNP positive antibodies in fraternal twins. Is this a subset of neonatal lupus erythematosus or a new syndrome? J Am Acad Dermatol 32:858-862.
20. Toriella HV. 1998. Chondrodysplasia punctata and maternal systemic lupus erythematosus. J Med Genet 35:698-699.