1993
Dermatosparaxis in children. A case report and review of the newly recognized phenotype.
Petty EM, Seashore MR, Braverman IM, Spiesel SZ, Smith LT, Milstone LM. Dermatosparaxis in children. A case report and review of the newly recognized phenotype. JAMA Dermatology 1993, 129: 1310-5. PMID: 8215497, DOI: 10.1001/archderm.129.10.1310.Peer-Reviewed Original ResearchConceptsMarked skin fragilityConnective tissue disordersUmbilical herniaTissue disordersBlue scleraeGrowth retardationSkin fragilityElectronmicroscopic findingsElectron microscopic findingsAutosomal recessive connective tissue disorderCharacteristic biochemicalCircular collagen fibersCase reportJoint laxityClinical diagnosisSkin laxityAbnormal processingLarge fontanellesConnective tissueAffected boyLaxityBruisabilityDisordersHerniaMicrognathiaDermatosparaxis in Children: A Case Report and Review of the Newly Recognized Phenotype
Petty E, Seashore M, Braverman I, Spiesel S, Smith L, Milstone L. Dermatosparaxis in Children: A Case Report and Review of the Newly Recognized Phenotype. JAMA Dermatology 1993, 129: 1310-1315. DOI: 10.1001/archderm.1993.01680310080014.Peer-Reviewed Original ResearchMarked skin fragilityConnective tissue disordersElectron microscopic findingsUmbilical herniaTissue disordersBlue scleraeGrowth retardationSkin fragilityAutosomal recessive connective tissue disorderCharacteristic biochemicalCircular collagen fibersCase reportJoint laxityClinical diagnosisElectronmicroscopic findingsSkin laxityAbnormal processingLarge fontanellesConnective tissueLaxityAffected boyBruisabilityDisordersHerniaMicrognathia
1992
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
Smith L, Wertelecki W, Milstone L, Petty E, Seashore M, Braverman I, Jenkins T, Byers P. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. American Journal Of Human Genetics 1992, 51: 235-44. PMID: 1642226, PMCID: PMC1682688.Peer-Reviewed Original ResearchConceptsAmino-terminal propeptideFragile skinType IConnective tissue disordersEhlers-Danlos syndromeLax jointsType VIIAffected animalsSkinChildrenCultured fibroblastsNormal cellsEhlers-Danlos syndrome type VIIPro alphaDisordersPropeptideAlphaDermatosparaxisProteolytic processingSepsisN-proteinaseCellsSyndromeCollagen fibrils