title: Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.
abstract: An 18-year-old female tertiary student was referred to a lipid clinic with hypertriglyceridaemia discovered after presentation with acute pancreatitis. The patient's only medication was l-thyroxine for treatment of hypothyroidism. She was overweight, normotensive, with unremarkable facies. However, she had hypermobile hand joints and brachydactyly resulting in loss of left 3-5 and right 4 and 5 knuckle definitions. Radiography revealed shortening of metacarpals 3-5 on the left and 4 and 5 on the right. Her mother had similar skeletal changes, consistent with a dominant mode of inheritance. Abnormally short digits involving the metacarpals, classified as brachydactyly type E, can be isolated or occur as part of a syndrome. Turner syndrome, Albright hereditary osteodystrophy, hypertension with brachydactyly, chromosome 2q37 microdeletion andPTHLHmutations were excluded following clinical, biochemical and genetic testing. No specific treatment was required. Genetic testing for isolated and syndromic forms of brachydactyly facilitates family screening and prepregnancy counselling.
authors.affiliation: Department of Clinical Biochemistry, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia.|School of Medicine and Pharmacology, University of Western Australia, Perth, Australia.
authors.forename: Michael M
authors.initials: MM
authors.lastname: Page
authors.affiliation: Department of Clinical Biochemistry, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia.|School of Medicine and Pharmacology, University of Western Australia, Perth, Australia.|School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia.
authors.forename: Amanda J
authors.initials: AJ
authors.lastname: Hooper
authors.affiliation: Department of Clinical Biochemistry, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia.|School of Medicine and Pharmacology, University of Western Australia, Perth, Australia.
authors.forename: Paul
authors.initials: P
authors.lastname: Glendenning
authors.affiliation: Department of Clinical Biochemistry, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia john.burnett@health.wa.gov.au.|School of Medicine and Pharmacology, University of Western Australia, Perth, Australia.
authors.forename: John R
authors.initials: JR
authors.lastname: Burnett
mesh_terms: D059327:Brachydactyly / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D015228:Hypertriglyceridemia / Q000209:etiology*; D010195:Pancreatitis / Q000209:etiology*; D055815:Young Adult
keywords: Calcium and bone; Endocrinology; Lipid disorders