Results 51 to 60 of about 2,899 (228)

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. [PDF]

, 2016
BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings.
Balasubramanian, M., Bejerano, G., Bernstein, J.A., Bowen, J., Calhoun, A.R., Chitayat, D., DDD Study, Guturu, H., Johnson, D.S., Lester, T., Levesque, S., Lord, H., Sillon, G., Sureka, D.L., Thuriot, F., Viskochil, D.H., Wenger, A.M.   +16 more
core   +1 more source

Diaphragmatic eventration

, 2011
The Radswiki, Liz Silverstone, Christopher Zoppo   +2 more
openaire   +2 more sources

Thoracic surgery in solving enormous elevation of the left hemidiaphragm [PDF]

, 2007
Background. Acquired elevation of the diaphragm is mostly the result of phrenic nerve paralysis, some of thoracic and abdominal patological states, and also some of neuromuscular diseases. Surgical treatment is rarely performed and is indicated when lung
Cvijanović Vlado, Durković Savo, Gulić Bojan, Kovačević Snežana, Marić Nebojša, Ristanović Aleksandar, Stamenović Davor, Stanić Vojkan   +7 more
core   +1 more source

EVENTRATION OF THE DIAPHRAGM, A RISK FACTOR FOR RECURRENT RESPIRATORY TRACT INFECTION – A CASE REPORT [PDF]

Romanian Journal of Pediatrics, 2015
Eventration of the diaphragm, congenital or acquired, represents a rare condition (1 to 10,000 live births), in which the dome of the diaphragm is abnormally elevated, due to an excessive amount of fi bro-elastic diaphragmatic tissue.
Mihaela Ciornei, Elena Hanganu, Diana Ecaterina Popa, T. Stanciu, C. Gheonea, B. Savu   +5 more
doaj   +1 more source

PadChest: A large chest x-ray image dataset with multi-label annotated reports [PDF]

, 2019
We present a labeled large-scale, high resolution chest x-ray dataset for the automated exploration of medical images along with their associated reports.
Bustos, Aurelia, de la Iglesia-Vayá, Maria, Pertusa, Antonio, Salinas, Jose-Maria   +3 more
core   +2 more sources

Diaphragmatic eventration in infants [PDF]

Thorax, 1973
Nine cases of diaphragmatic eventration are presented in infants, seven of whom required surgery. All were seen during the first 19 months of life and seven were less than 1 year old. Although differing from other studies, our cases show a predominance of right-sided lesions.
F, París, E, Blasco, A, Cantó, V, Tarazona, M, Casillas   +4 more
openaire   +2 more sources

Complete eventration of right hemidiaphragm: A rare presentation

Journal of Family Medicine and Primary Care, 2017
Eventration of the diaphragm is a term used to describe an abnormal elevation of part or whole of the hemidiaphragm, where the whole or part of the diaphragm is made up of a thin fibro membranous sheet replacing normal diaphragmatic musculature. Complete
Krushna Makwana, Manish Pendse
doaj   +1 more source

Anaesthetic management of an infant posted for ventricular septal defect closure with right-sided eventration of diaphragm

Indian Journal of Anaesthesia, 2018
Eventration of the diaphragm is a rare entity, characterised by abnormal elevation of a dome of diaphragm. In this condition, the diaphragm is composed of fibrous tissue with few or no interspersed muscle fibres. Eventration can be congenital or acquired.
Chitralekha Patra, Naveen G Singh, N Manjunatha, Anand Bhatt   +3 more
doaj   +1 more source

Thoracoscopic operations in children [PDF]

, 2014
published_or_final_versio
CT Lau, Jessie Leung, Kenneth KY Wong, null null, Theresa WC Hui   +4 more
core   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source