Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature

Classic rhizomelic chondrodysplasia punctata is a rare, autosomal, recessively inherited disorder that is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, cataracts, developmental delay, and early lethality. A distinctive biochemical profile is characteri...

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Veröffentlicht in:	Pediatrics (Evanston) 2007-08, Vol.120 (2), p.e436-e441
Hauptverfasser:	Shanske, Alan L, Bernstein, Larry, Herzog, Ronit
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Autoimmune diseases Chondrodysplasia Punctata, Rhizomelic - diagnosis Chondrodysplasia Punctata, Rhizomelic - genetics Chondrodysplasia Punctata, Rhizomelic - immunology Diagnosis, Differential Female Genetic disorders Humans Infant, Newborn Lupus Erythematosus, Systemic - complications Lupus Erythematosus, Systemic - diagnosis Lupus Erythematosus, Systemic - immunology Male Middle Aged Pediatrics Pregnancy Prenatal Exposure Delayed Effects - diagnosis Prenatal Exposure Delayed Effects - etiology Prenatal Exposure Delayed Effects - immunology
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