Bassett, John and Douzgou, Sofia and Kerr, Bronwyn (2016) Severe constipation in a patient with Myhre syndrome:a case report. Clinical Dysmorphology, 25 (2). pp. 54-57. ISSN 0962-8827
Full text not available from this repository.Abstract
Myhre syndrome is a rare autosomal dominant genetic condition characterized by short stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal abnormalities, decreased joint motility, developmental delay, deafness and cardiac defects. Myhre syndrome and the allelic laryngeal stenosis, arthropathy, prognathism and short stature syndrome are caused by a missense mutation of SMAD4, resulting in altered expression of transforming growth factor β and bone morphogenic protein, affecting cell growth and differentiation. Here, we report on the case of a 7-year-old girl showing symptoms of Myhre syndrome and with a known SMAD4 mutation presenting with the novel symptom of severe constipation.