TY - JOUR
T1 - Clinical features and respiratory complications in Myhre syndrome
AU - McGowan, Ruth
AU - Gulati, Ramkumar
AU - McHenry, Pamela
AU - Cooke, Alexander
AU - Butler, Sandra
AU - Keng, Wee Teik
AU - Murday, Victoria
AU - Whiteford, Margo
AU - Dikkers, Frederik G.
AU - Sikkema-Raddatz, Brigit
AU - van Essen, Ton
AU - Tolmie, John
PY - 2011
Y1 - 2011
N2 - 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. (C) 2011 Elsevier Masson SAS. All rights reserved
AB - 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. (C) 2011 Elsevier Masson SAS. All rights reserved
U2 - https://doi.org/10.1016/j.ejmg.2011.07.001
DO - https://doi.org/10.1016/j.ejmg.2011.07.001
M3 - Article
C2 - 21816239
SN - 1769-7212
VL - 54
SP - E553-E559
JO - European journal of medical genetics
JF - European journal of medical genetics
IS - 6
ER -