Results 161 to 170 of about 569,920 (414)
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Indian Journal of Pathology and MicrobiologyABSTRACT Lipoblastomas are benign tumors arising from embryonic white fatty cells that continue to proliferate and develop during the postnatal period. It commonly affects children 3 years of age or younger, with the neck being the most frequent site in the head and neck region. Only 10% of cases are seen at 10 years or above.
Jochima Cota +4 more
openaire +3 more sources
Otolaryngologic Management related with Cleft Lip & Palate [PDF]
, 2007 Team approach for the management of cleft lip & palate patients is very important. Plastic surgeon, oral-maxillofacial surgeon, orthodontist, otolaryngologist, and speech therapist should be included in the team.
최홍식
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Atelier 3 : Université de Lausanne – vendredi 29 septembre 2023
, 2022 Lip entre France et Suisse Le conflit qui se déclenche à l’usine Lip de Palente en 1973 – c’est-à-dire il y a un demi-siècle – a une triple dimension locale, française et internationale.
Mélanie Edeline
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Mucocele of lower lip treated with constitutional homoeopathic medicine Silicea – A case report
, 2023 Uma Maheswari, PR Sisir, S.T. Gopukumar
openalex +2 more sources
Craniofacial Centre of Children's Hospital Boston and Sequential Management for Cleft Lip and Palate [PDF]
, 2008 Craniofacial Centre at Children's Hospital Boston is a worldwide leader in the care of children and adolescents with craniofacial anomalies especially with cleft lip and/or cleft palate, which provides a team approach to the evaluation, diagnosis and ...
정영수
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Motor equivalent strategies in the production of /u/ in perturbed speech
, 2010 Several articulatory strategies are available during the production of /u/, all resulting in a similar acoustic output. /u/ has two main constrictions, at the velum and at the lips.
Perrier, Pascal +2 more
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