Results 51 to 60 of about 9,070 (214)

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Arterial hypertension after surgical closure of omphalocele and gastroschisis [PDF]

, 2018
Arterial hypertension has been reported as a complication of surgical closure of an abdominal wall defect. No report studying the incidence, the characteristics and the clinical significance of hypertension after surgical correction of an omphalocele or ...
Cachat, François, McGahren, Eugene, Norwood, Victoria, Reinberg, Olivier, Van Melle, Guy   +4 more
core  

The Exstrophy-epispadias complex [PDF]

, 2009
Exstrophy-epispadias complex ( EEC) represents a spectrum of genitourinary malformations ranging in severity from epispadias ( E) to classical bladder exstrophy (CEB) and exstrophy of the cloaca (EC).
Anne-Karoline Ebert, Heiko Reutter, Michael Ludwig, Wolfgang H Rösch, JP Gearhart, SA Boyadjiev, Anonymous, AH Bennet, E Ives, L Allen, L Gambhir, LM James, P Yang, ML Martinez-Frias, CP Nelson, AR Caton, BM Harvard, CC Higgins, RD Jeffs, RT Soper, AB Belman, JC Carey, RS Hurwitz, CA Moore, KM Keppler-Noreuil, KM Keppler-Noreuil, WH Rösch, W Rösch, JM Schober, CRJ Woodhouse, EC Muecke, PF Austin, SC Van der Putte, JV Thomalla, LJ Russell, WB Greene, KL Jones, H Mildenberger, C Vermeij-Keers, X Wei, X Wei, JF Van der Werff, S Beaudoin, GC Vedel-Macrander, J Männer, W Cheng, TA Ince, EJ Messelink, H Reutter, E Shapiro, H Reutter, M Ludwig, CO Carter, M Ludwig, H Reutter, H Reutter, N Risch, NM Smith, C Thauvin-Robinet, H Reutter, JS Nye, B Utsch, M Seri, J Hipp, R Byron-Scott, J Wood, M Jordan, MR Wakefield, NH Robin, MG Pinette, LA Lizcano-Gil, IM Orioli, F Mollica, AL Shanske, HM Wood, HM Wood, E Yokoyama, AA Stec, PD Sponseller, JP Gearhart, RI Silver, AK Ebert, RI Mathews, BR Lee, R Mathews, M Della Monica, WJ Cromie, TH Diseth, DA Diamond, PDE Mouriquand, M Baka-Jakubiak, P Cuckow, RW Grady, ME Mitchell, WH Rösch, KM Schrott, R Stein, S Pahernik, R Stein, PG Ransley, R Stein, CR Woodhouse, PC Gargollo, JP Gearhart, T Burki, A Schröder, CRJ Woodhouse, J Ben-Chaim, A Ebert, RI Mathews, C Lee, A Ebert, TE Novack, N Smeulders, JM Rieder   +114 more
core   +1 more source

Development of the abdominal musculature in the chicken embryo

Journal of Anatomy, EarlyView.
In this study, we investigate anatomy, morphogenesis, segmental origin, and fiber formation of the abdominal musculature in the chicken embryo. We show that abdominal muscles arise from somites 24 to 28, and that the segmental identity of individual fibers in the abdominal muscle sheets is maintained.
Margarethe Draga, Luke Orth, Julia Khabyuk, Vanessa Holtwick, Johanna Heinen, Felicitas Pröls, Martin Scaal   +6 more
wiley   +1 more source

Superior vesical fissure concealed by giant omphalocele: A case report

Journal of Pediatric Surgery Case Reports, 2016
Omphalocele is an abdominal wall defect characterized by exteriorization of abdominal viscera that is covered by a membrane. Omphalocele has a well-known association with chromosome abnormalities. Here we present a case of a superior vesical fissure (SVF)
Danial Hayek, Eric Massanyi, Melissa Mancuso, Katherine Krepkovich, Aaron Garrison   +4 more
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Maternal Fish Intake in the Year Prior to Conception and Birth Defects, National Birth Defects Prevention Study, 1997–2011

Birth Defects Research, Volume 118, Issue 5, May 2026.
ABSTRACT Background Epidemiologic data on the association between maternal fish intake and birth defects are sparse. Our objective was to assess associations between maternal fish intake and 52 different birth defects, most of which have not been assessed previously.
Dorothy Kim Waller, Zeyu Miao, Renata H. Benjamin, Richard Finnell, Nithya Lakshmi Mohan Dass, Eirini Nestoridi, Marcia C. de Oliveira Otto, Julie Peterson, Tunu Ramadhani, Mark A. Canfield, the National Birth Defects Prevention Study   +10 more
wiley   +1 more source

Giant omphalocele with right lung agenesia and bronchial tracheal hypoplasia: A case report

Radiology Case Reports
The omphalocele is an abdominal wall defect at the base of the umbilical cord, with the worldwide prevalence of 2.6 per 10,000 births. Omphalocele contains herniated abdominal organs and is classified in small and giant based on the size of the defect ...
Giuseppe De Bernardo, Marta Giovengo, Desiree Sordino, Maurizio Giordano, Massimo Zeccolini   +4 more
doaj   +1 more source

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

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 669-686, May 2026.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source