title: Clinical features and respiratory complications in Myhre syndrome.
abstract: We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features suggestive of Myhre syndrome and evidence of skewed X-chromosome inactivation in her blood DNA. Short stature, deafness, learning difficulties, skeletal anomalies and facial dysmorphisms were evident in all cases. Arthralgia and stiff joints with limited movement were also present. The facial appearance, thickened skin, a 'muscular' habitus are memorable features. The female patient was least affected: this patient and one affected male displayed streaky skin with areas of patchy thickening, suggestive of genetic mosaicism. One patient developed sleep apnoea, a restrictive ventilatory defect and died following a choking episode. Another affected male developed recurrent, progressive, proximal, tracheal stenosis requiring partial tracheal resection, laser treatment and eventually tracheotomy. Review of Myhre syndrome patients in the literature and syndromes in the differential diagnosis, suggests heterogeneity in Myhre syndrome and clinical overlap with Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature syndrome.
authors.affiliation: Ferguson-Smith Dept. of Clinical Genetics, Yorkhill Hospital, Glasgow, UK. ruth.mcgowan@ggc.scot.nhs.uk
authors.forename: Ruth
authors.initials: R
authors.lastname: McGowan
authors.forename: Ramkumar
authors.initials: R
authors.lastname: Gulati
authors.forename: Pamela
authors.initials: P
authors.lastname: McHenry
authors.forename: Alexander
authors.initials: A
authors.lastname: Cooke
authors.forename: Sandra
authors.initials: S
authors.lastname: Butler
authors.forename: Wee Teik
authors.initials: WT
authors.lastname: Keng
authors.forename: Victoria
authors.initials: V
authors.lastname: Murday
authors.forename: Margo
authors.initials: M
authors.lastname: Whiteford
authors.forename: Frederik G
authors.initials: FG
authors.lastname: Dikkers
authors.forename: Brigit
authors.initials: B
authors.lastname: Sikkema-Raddatz
authors.forename: Ton
authors.initials: T
authors.lastname: van Essen
authors.forename: John
authors.initials: J
authors.lastname: Tolmie
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D000328:Adult; D003456:Cryptorchidism / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis; D006984:Hypertrophy / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D007592:Joint Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D007829:Laryngostenosis / Q000175:diagnosis; D008297:Male; D008659:Metabolic Diseases / Q000175:diagnosis; D009397:Nephrocalcinosis / Q000175:diagnosis; D010375:Pedigree; D011378:Prognathism / Q000175:diagnosis; D012137:Respiratory System / Q000473:pathology*; D012868:Skin Abnormalities / Q000473:pathology; D014135:Tracheal Stenosis / Q000175:diagnosis; D006113:United Kingdom; D049951:X Chromosome Inactivation