title: Connective tissue involvement in two patients with features of cranioectodermal dysplasia.
abstract: Cranioectodermal dysplasia (CED) is an infrequently described autosomal recessive disorder characterized by craniofacial, ectodermal and skeletal abnormalities, and associated with increased risk of chronic renal failure. A degree of joint laxity has been noted in some CED patients, but significant skin and soft-tissue laxity has not previously been highlighted as part of the syndrome. We report on two unrelated patients with CED and significant connective tissue involvement, including cutis laxa, hernias, and joint laxity. We conclude with a brief discussion of the differential diagnosis.
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK. andrew.fry@cardiffandvale.wales.nhs.uk
authors.forename: Andrew E
authors.initials: AE
authors.lastname: Fry
authors.forename: Claus
authors.initials: C
authors.lastname: Klingenberg
authors.forename: Jean
authors.initials: J
authors.lastname: Matthes
authors.forename: Ketil
authors.initials: K
authors.lastname: Heimdal
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
authors.forename: Daniela T
authors.initials: DT
authors.lastname: Pilz
mesh_terms: D002648:Child; D002675:Child, Preschool; D003238:Connective Tissue / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000175:diagnosis; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D008297:Male