Chondrodysplasia punctata and maternal autoimmune disease: A new case and review of the literature

Pediatrics

Volumn 120, Issue 2, 2007, Pages

  Shanske, Alan L ^a,b   Bernstein, Larry ^a   Herzog, Ronit ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

Author keywords

Autoimmune disease; Chondrodysplasia punctata; Systemic lupus erythematosus

Indexed keywords

AUTOANTIBODY; PLASMALOGEN;

ANTIBODY PRODUCTION; ARTICLE; AUTOIMMUNE DISEASE; CASE REPORT; CHOLESTEROL SYNTHESIS; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; HUMAN; MALE; MATERNAL DISEASE; NEWBORN; PRIORITY JOURNAL; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT, NEWBORN; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; PREGNANCY; PRENATAL EXPOSURE DELAYED EFFECTS;

EID: 34547697679     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2006-2997     Document Type: Article

References (13)

1. Moser A, Moser H, Kreiter N, Raymond G. Life expectancy in rhizomelic chondrodysplasia punctata. Am J Hum Genet. 1996; 59(suppl 4):99
2. Bjorkhem I, Sisfontes L, Bostrom B, Kase BF, Blomstrand R. Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals. J Lipid Res. 1986;27:786-791
3. Moser AB, Jones DS, Raymond GV, Moser HW. Plasma and red blood cell fatty acids in peroxisomal disorders. Neurochem Res. 1999;24:187-197
4. Moser AB, Kreaiter N, Bezman L, et al. Plasma very long chain fatty acids in 3,000 peroxisomal disease patients and 29,000 controls. Ann Neurol. 1989;45:100-110
5. Kelley RI. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultures skin fibroblasts. Clin Chim Acta. 1995;236:45-58
6. Costa T, Tiller G, Chitayat D, Silverman E. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two infants: coincidence or association? Presented at: first meeting of the Bone Dysplasia Society; June 17-19, 1993; Chicago, IL
7. Mansour S, Liberman D, Young I. Brachytelephalangic chondrodysplasia punctata in an extremely premature infant. Am J Med Genet. 1994;53:81-82
8. Kelly TE, Alford BA, Greer KM. Chondrodysplasia punctata stemming from maternal lupus erythematosus. Am J Med Genet. 1999;83:397-401
9. Suzuki H, Silverman ED, Wu X, et al. Effect of maternal autoantibodies on fetal cardiac conduction: an experimental murine model. Pediatr Res. 2005;57:557-562
10. Elcioglu N, Hall CM. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence? J Med Genet. 1998;35:690-694
11. Toriello HV. Chondrodysplasia punctata and maternal systemic lupus erythematosus. J Med Genet. 1998;35:698-689
12. Austin-Ward E, Castillo S, Cuchacovich M, et al. Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations. J Med Genet. 1998;35:695-697
13. Kozlowski K, Basel D, Beighton P. Chondrodysplasia punctata in siblings and maternal lupus erythematosus. Clin Genet. 2004; 66:545-549