Results 21 to 30 of about 365 (127)

Updated EUROCAT guidelines for classification of cases with congenital anomalies

Birth Defects Research, Volume 116, Issue 2, February 2024.
Abstract Background Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research.
Jorieke E. H. Bergman, Annie Perraud, Ingeborg Barišić, Agnieszka Kinsner‐Ovaskainen, Joan K. Morris, David Tucker, Diana Wellesley, Ester Garne   +7 more
wiley   +1 more source

Genetic etiologies and diagnostic methods for congenital ventriculomegaly and hydrocephalus: A scoping review

Birth Defects Research, Volume 116, Issue 1, January 2024.
Abstract Background Congenital hydrocephalus (CH) is a life‐threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often ...
Caroline Aragón, D'aviyan Robinson, Megan Kocher, Katie Barrick, Lihsia Chen, Heather Zierhut   +5 more
wiley   +1 more source

Ivemark syndrome: asplenia with kidney collecting duct cysts and polysplenia with cerebellar cyst

The Turkish Journal of Pediatrics, 2000
Two newborns, one male and one female, from two different families, with Ivemark syndrome proven at autopsy are reported. One of them had asplenia and another had polysplenia.
V Krźelj, I Kragić, M Glavina-Durdov, R Jakl, M Bucat, I Kuzmić-Prusac   +5 more
doaj  

Polysplenia Syndrome With Persistent Left Superior Vena Cava: Case Report and Review of the Literature. [PDF]

Glob Pediatr Health, 2022
Salma EH, Najwa A, Mehdi T, Nazik A, Latifa C, Siham EH.   +5 more
europepmc   +1 more source

Renal-hepatic-pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature. [PDF]

BMC Pediatr, 2022
Zhu H, Zhao ZH, Zhu SY, Xiong F, He LH, Zhang Y, Wang J.   +6 more
europepmc   +1 more source

Unravelling the complexity of heterotaxy syndrome. [PDF]

BMJ Case Rep, 2023
Bilamge A, Vallabhaneni P, Didel S, Rajagopal R.   +3 more
europepmc   +1 more source

A case of isomerism with infracardiac total abnormal pulmonary venous connection: demonstration of extracardiac venous anomalies by CT angiography

Türk Kardiyoloji Derneği Arşivi, 2014
Göksel Açar, Serdar Fidan, Yasa Kaynar Topal, Zulal Alnur Uslu, Macit Kalcık   +4 more
doaj   +1 more source

Role of autopsy in diagnosing asplenia and right bilobed lung in a fetus with dextrocardia. [PDF]

BMJ Case Rep, 2023
Nerune SM, Bidri SR, Sandilya U, Das SK.
europepmc   +1 more source

Ivemark syndrome: bronchial compression from anomalous pulmonary venous anatomy. [PDF]

J Surg Case Rep, 2017
Patel PH, Hayden J, Richardson R.
europepmc   +1 more source

Fetal hyperechoic kidney cohort study and a meta-analysis. [PDF]

Front Genet, 2023
Yang W, Zu S, Jin Q, Liu Y, Wang C, Shen H, Wang R, Zhang H, Liu M.   +8 more
europepmc   +1 more source