Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.[orpha.net]
Clinical data on Myhre syndrome patients are presented in table 1.[jmg.bmj.com]
The risk for this condition appears to increase with age and it usually presents in adolescence or young adulthood.[rarediseases.org]
Defensin-1, an antimicrobial peptide present in the saliva of patients with oral diseases Oral Dis, 5 (1999), pp. 139-142 [19.] Lamey P.J., Murray B.M., Eddie S.A., Freeman R.E.[elsevier.es]
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
Cross syndrome comparison of sleep problems in children with Downsyndrome and Williams syndrome. Res in Devel Disab. 2013;34:1572-80. [ Links ] 27. Mandolesi L, Addona F, Foti F, Manghini D, Petrosini L, Vicari S.[scielo.br]
Eye (ophthalmologic) abnormalities can develop including refraction abnormalities such as an inability to focus on close up objects (hypermetropia or farsightedness) or an imperfection in the curvature of the eye leading to blurredvision (astigmatism[rarediseases.org]
Working memoryimpairment in people with Williams syndrome: Effects of delay, task and stimuli. Brain and Cogn. 2009;69:495-503. [ Links ] 29. Carney DPJ, Brown JH, Henry LA. Executive function in Williams and Down syndromes. Res in.[scielo.br]
A multicenter, placebo-controlled trial of melatonin for sleepdisturbance in Alzheimer's disease. Sleep Med. 2003;26(7):893-901. [ Links ] 16. Nováková M, Nevsímalová S, Prihodová I, Sládek M, Sumová A.[scielo.br]
Balogh Letter to the editor – Hemochromatosis, erythrocytosis and the JAK2 p.V617F mutation. Stephen E. Langabeer Click aquí para descargar el PDF de la edición completa.[infobioquimica.com]
Laryngotracheal stenosis may require surgical treatment. However, the condition may recur after successful treatment.[rarediseases.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
Effectiveness of kampo medicine (sai-boku-to) in treatment of patients with glossodynia Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 86 (1998), pp. 682-686 [21.] Tammiala-Salonen T., Forssell H.[elsevier.es]
Parents should talk to their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
This is considered to be a storage disease with progressive worsening and a poor prognosis.[jmg.bmj.com]
Delvin Pediatric Metabolic Syndrome: pathophysiology and laboratory assessment. Victoria Higgins, Khosrow Adeli Pediatric reference intervals for biochemical markers: gaps and challenges, recent national initiatives and future perspectives. H.[infobioquimica.com]
Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis.[rarediseases.org]