Dermatosparaxis 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