Results 51 to 60 of about 28,697 (231)

Hérnia Diafragmática Congénita. Casuística de 10 Anos [PDF]

, 1997
Os autores fizeram a revisão dos casos de hérnia diafragmática congénita admitidos na Unidade de Cuidados Intensivos Neonatais do Hospital de Dona Estefânia de Janeiro de 1984 a Dezembro de 1993 (10 anos). Neste período foram internados 53 recém-nascidos
Neto, MT, Serelha, M, Soares, E, Tavares, MN, Videira-Amaral, J   +4 more
core  

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, EarlyView.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient [PDF]

, 2010
In this paper we present the detailed clinical and cytogenetic analysis of a prenatally detected complex Congenital Diaphragmatic Hernia (CDH) patient with a mosaic unbalanced translocation (5;12).
Beurkens, L.W.J.E. (Leonardus), Douben, H. (Hannie), Eussen, H.J.F.M.M. (Bert), Govaerts, L.C. (Lutgarde), Grijseels, E.W.M. (Els), Klein, J.E.M.M. (Annelies) de, Krijger, R.R. (Ronald) de, Leguin, M. (Maarten), Noomen, P. (Petra), Tibboel, D. (Dick), Van Opstal, A.R.M. (Diane), Veenma, D.C.M. (Danielle)   +11 more
core   +4 more sources

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

CONGENITAL DIAPHRAGMATIC HERNIA

Annals of Surgery, 1923
Posterolateral congenital diaphragmatic hernia (Bochdalek's hernia, CDH) that presents in the neonatal period is often manifest as life-threatening respiratory distress due to mechanical compression of the cardiopulmonary system by herniated viscera. Most patients can be supported through surgical reduction and repair with standard neonatal techniques.
William T. Robinson, John F. Connors
openaire   +3 more sources

A rare diaphragmatic hernia with a delayed presentation of intestinal symptoms following spleno-distal pancreatectomy: a case report [PDF]

, 2017
Acquired diaphragmatic hernia, non-related to trauma, is a very rare condition. It can constitute a therapeutic problem and the surgical solution is not always immediately clear.
Andreotti, Dario, Caruso, Annalisa, Malvicini, Enzo, Occhionorelli, Savino, Pansini, Giancarlo, Pascale, Giovanni, Pigato, Ilaria, Stano, Rocco   +7 more
core   +1 more source

Novel Fetal Phenotype for Pan‐Chung‐Bellen Syndrome Including Congenital Diaphragmatic Hernia

Prenatal Diagnosis, EarlyView.
Nimerta Sandhu, Noura Osman, Nina Boe, Herman Hedriana, Krishna Singh   +4 more
wiley   +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

Lung growth factors in the amniotic fluid of normal pregnancies and with congenital diaphragmatic hernia [PDF]

, 2015
Respiratory failure secondary to pulmonary hypoplasia is the main cause of death in congenital diaphragmatic hernia (CDH). Lung growth is regulated by growth factors (GFs), whose imbalances are reported in pathological conditions.
Bouch\ue8, Carlo, Candilera, Vanessa, Pederiva, Federica, Schleef, Jurgen   +3 more
core   +1 more source