Results 41 to 50 of about 352,319 (186)

Decision-making after Ultrasound Diagnosis of Fetal Abnormality [PDF]

, 2007
__Abstract__ Congenital abnormalities are the main cause of infant death in industrialised countriesY Furthermore, these form the main diagnosis in end-of-life decisions in infants.3 Congenital abnormalities are frequently diagnosed before birth, as
Bijma, H.H. (Hilmar)
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Infected type 1 congenital upper lip sinus in 8 years child: A rare case report

Radiology Case Reports
A congenital lip sinus is a rare condition, also known as a lip pit or dimples. The lower lip sinus is more frequently observed with a prevalence of approximately 0.001% in general populations, while the upper lip sinus is even rarer with not more than ...
Prerana Singh Rokaha, MBBS, Suman Paudel, MD, Akhilendra Jha, MD, Pratik Singh Rokaha, MBBS, Sushil Dulal, MD   +4 more
doaj   +1 more source

Association of drug treatments in pregnant women with the risk of external ear congenital abnormalities in their offspring: a population-based case-control study [PDF]

, 2014
The objective of this study was to evaluate the possible association of drug treatments in pregnant women with a higher risk of congenital abnormalities of the external ear, particularly microtia/anotia, in their children.
Bánhidy Ferenc, Czeizel Endre, Paput László   +2 more
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Polydactyly 24 in a Female Neonate

Case Reports in Obstetrics and Gynecology, 2013
Polydactyly is perhaps one of the most common congenital hand and foot anomalies. Tetrapolydactyly (polydactyly 24) is a very rare form of hand and foot anomalies.
Oluseyi O. A. Atanda, Kola M. Owonikoko, Adewale S. Adeyemi, Olanrewaju Bajowa   +3 more
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Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]

, 2016
Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal, Al-Qusairi, Al-Qusairi, Amoasii, Bach, Balla, Bansal, Beggs, Bevilacqua, Bitoun, Blondelle, Blot, Bohm, Bohm, Boncompagni, Buj-Bello, Butler, Caroline Sewry, Carozzi, Ceyhan-Birsoy, Cowling, Cowling, D'Alessandro, Denic, Dowling, Dowling, Dubowitz, Durieux, Durieux, Falcone, Fanny Pilot-Storck, Ferguson, Franzini-Armstrong, Fugier, Gemma L. Walmsley, Hamanaka, Helland, Hnia, Hnia, Ikeda, Inès Barthélémy, Jocelyn Laporte, Jordan Blondelle, Joubert, Jungbluth, Jungbluth, Jungbluth, Kerrie Venner, Kihara, Kihara, Klinge, Kramer, Laporte, Laurent Tiret, Lawlor, Lee, Lin, Majczenko, Manta, Marie Maurer, Maurer, McKerrell, McKerrell, Metzger, Molino, Muhammad, Nicolas Blanchard-Gutton, Nicot, Nishimura, Nori, Olby, Parton, Pelé, Pfaffl, Picas, Razzaq, Richard J. Piercy, Romero, Romero, Royer, Sabbadini, Schneiter, Shelton, Shichiji, Sinha, Strbenc, Stéphane Blot, Tiret, Tjondrokoesoemo, Toussaint, Uwanogho, Walmsley, Zhou   +92 more
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Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital in Enugu, South-East Nigeria - a retrospective study

BMC Research Notes, 2012
Background Congenital abnormalities are not uncommon among newborns and contribute to neonatal and infant morbidity and mortality. The prevalence and pattern of presentation vary from place to place.
Obu Herbert A, Chinawa Josephat M, Uleanya Nwachinemere D, Adimora Gilbert N, Obi Ikechukwu E   +4 more
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Ectopia cordis : a report of two cases in Cameroon [PDF]

, 2014
This article reports two cases of ectopia cordis in two children aged one day and twenty months respectively. A one day old newborn had complete thoracic ectopia cordis associated with an internal cardiac defect and severe thoracic and abdominal wall ...
Chelo, David, Koki Ndombo, Paul O., Mbassi Awa, Hubert Desire, Menanga, Alain P., Nde Kamgne, M., Ngo Um, Suzanne, Nguefack Dongmo, Felicitee   +6 more
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Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]

, 2010
Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Amir, Archer, Ariani, Artuso, Bahi-Buisson, Carney, Christen, Einspieler, Goutieres, Hagberg, Hagberg, Hagberg, Hagberg, Hanefeld, Huppke, Kankirawatana, Leonard, Neul, Percy, Renieri, Rett, Rolando, Wan, Watson, Zappella   +24 more
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Validasi Ultrasonografi Transabdominal pada Luaran Kelainan Kongenital Janin di RSUP Dr. Hasan Sadikin Bandung Tahun 2018

Obgynia, 2020
Objective: The purpose of this study was to determine transabdominal ultrasound validation in detecting fetal congenital abnormalities in RSUP dr. Hasan Sadikin Bandung.
Yoga Paripurna, M. Rizkar Arev Sukarsa, Hanom Husni Syam, R. M. Sonny Sasotya, Adhi Pribadi, M. Alamsyah Aziz, Akhmad Yogi Pramatirta, Amillia Siddiq   +7 more
doaj   +1 more source

A survey of chromosome anomalies in Malta [PDF]

, 1989
433 individuals referred for chromosome analysis between 1983 and 1987 were included in the survey. Among individuals with dysmorphic features or congenital anomalies 42% of babies referred in the neonatal period and 12 to 30% of individuals in older age
Cuschieri, Alfred, Gauci, Sandra
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