Results 81 to 90 of about 222,813 (284)

Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry [PDF]

, 2005
BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data
Czeizel, Andrew E., Sárközi, Andrea, Wyszynski, Diego F   +2 more
core   +3 more sources

Impact of occult spinal abnormalities on clinical outcomes in children with refractory constipation

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Rishi Bolia, Stephanie Lee, Sara Alremawi, Nikhil Thapar   +3 more
wiley   +1 more source

Complex trajectories are associated with neurological impairment in infants with congenital gastrointestinal malformations aged two

Acta Paediatrica, Volume 114, Issue 5, Page 992-998, May 2025.
Abstract Aim Our aims were to describe the neurodevelopment of infants with congenital gastrointestinal malformations at 2 years of age and to investigate the association between developmental delay and complex trajectories. Methods We conducted a retrospective cohort study.
Manon Midavaine, Nicolas Vinit, Victor Sartorius, Elsa Kermorvant‐Duchemin, Alexandre Lapillonne   +4 more
wiley   +1 more source

Anorectal malformation associated with a mutation in the P63 gene in a family with split hand–foot malformation [PDF]

, 2013
PURPOSE: The aims of this study were to identify the mutation gene of a Chinese family with anorectal malformation (ARM) associated with split hand–foot malformation and to determine the spatiotemporal expression of the mutated gene during hindgut and ...
Pengjun Su, Weilin Wang, Ying Huang, Yuhang Yuan, Zhibo Zhang   +4 more
core   +1 more source

An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Dilated cardiomyopathy (DCM) is a rare disease in children and a leading cause of heart failure. There are numerous causes of DCM including genetic causes leading to isolated or syndromic presentations, with a wide variety of implicated genes.
Alicia Coudert, Julien Thevenon, Quentin Testard, Véronique Satre, Radu Harbuz, Patrice Bouvagnet, Pierre‐Yves Rabattu, Charles Coutton, Pauline Le Tanno   +8 more
wiley   +1 more source

The rare case of a true rectovaginal fistula and its repair

Journal of Pediatric Surgery Case Reports, 2019
Background: Within the spectrum of anorectal malformations, congenital rectovaginal fistulae are a rare but treatable entity. These less common variates can be treated much in the same fashion as other malformations such as imperforate anus or ...
Carly R. Richards, Nicole R. Lafferriere, Sidney M. Johnson   +2 more
doaj  

Congenital anomalies in low- and middle-income countries: the unborn child of global surgery. [PDF]

, 2014
Surgically correctable congenital anomalies cause a substantial burden of global morbidity and mortality. These anomalies disproportionately affect children in low- and middle-income countries (LMICs) due to sociocultural, economic, and structural ...
AF Uba, AL Christianson, AR Measham, B Nandi, BC Warf, CJL Murray, D Adeyemi, D Ozgediz, D Ozgediz, D Poenaru, Diana L. Farmer, Doruk Ozgediz, DPJ Poenaru, DS Corlew, E Tefera, EE Ugiagbe, G Shah, GP Hadley, H Higashi, J Manson, J Rohana, J Sekabira, JA Salomon, JI Hoffman, KW Rattray, L Finer, L Mo-suwan, LB Chirdan, LB Chirdan, LC Nacul, M Peyvasteh, MADMS Islam, MJ Poley, MNH Toro, Nicole A. Sitkin, O Adejuyigbe, P Farmer, P Wickramasinghe, Peter Donkor, PL Bernier, S Agarwala, S Askarpour, S Bickler, S Mhando, SB Goksan, SO Ekenze, SO Ekenze, SW Bickler, SW Bickler, T Ozdogan, V Wu, VB Penchaszadeh, VK Wu, World Health Organization   +53 more
core   +3 more sources

A Retrospective Study of Infant and Maternal Risk Factors in LUMBAR Syndrome

Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.
A database of 109 published individuals with LUMBAR syndrome was used to identify potential infant and maternal risk factors. Results showed that LUMBAR syndrome is significantly more common in full‐term, normal birth weight, singleton, girls. There were no reports in twins or other multiple births, no reports of familial recurrence, and no repeated ...
Denise W. Metry, Dawn H. Siegel, Kim M. Keppler‐Noreuil   +2 more
wiley   +1 more source

Reply: Teaching Anorectal Malformations [PDF]

Journal of Neonatal Surgery, 2015
Please see ...
openaire   +3 more sources

FAECAL CONTINENCE AFTER RECONSTRUCTION OF ANORECTAL MALFORMATIONS

Slovenska pediatrija, 2020
The aim of the article is to review anorectal malformations. Babies born with anorectal anomalies need surgical treatment to be able to pass meconium and faeces. Surgical management can sometimes be achieved in a single stage.
Polona Studen Pauletič
doaj   +1 more source