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