Results 21 to 30 of about 350,440 (325)

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 more sources

A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis [PDF]

Asian Spine Journal, 2016
Study DesignRetrospective study.PurposeTo identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis.Overview of LiteratureCongenital and idiopathic scoliosis (IS) are ...
Evin Bozcali, Hanifi Ucpunar, Ahmet Sevencan, Mehmet Bulent Balioglu, Akif Albayrak, Veli Polat   +5 more
doaj   +1 more source

Arterial dysgenesis and limb defects : Clinical and experimental examples [PDF]

, 2017
Acknowledgements This article is dedicated to Dr David S. Packard Jr. With thanks to Dr John DeSesso, Dr Lewis B. Holmes, Dr Mark Levinsohn, Dr David S.
Hootnick, David R., Vargesson, Neil
core   +1 more source

Anomalous Retro-Psoas Iliac Artery: A Case Report

대한영상의학회지, 2020
The anomalous retro-psoas iliac artery is an extremely rare congenital iliolumbar vascular anomaly. A 51-year-old woman presented to our emergency department with worsening right lower extremity pain and weakness for 3 months.
Beum Jin Kim, Youngjun Kim
doaj   +1 more source

Congenital microcephaly [PDF]

, 2014
The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a ...
Agha, Ahmad, Arai, Banin, Bettencourt-Dias, Bicknell, Bicknell, Bolanos-Garcia, Bond, Bongers, Buchman, Caldecott, Caldecott, Capo-Chichi, Carney, Casey, Cimprich, Cizmecioglu, Croteau, Dehay, Dehay, Deriano, Domchek, Fish, Gatz, Gellert, Genin, Gilmore, Gineau, Gorlin, Griffith, Gruber, Guernsey, Han, Hanks, Heldin, Hemerly, Herzog, Heyer, Hickson, Hinchcliffe, Hughes, Issa, Jaglin, Jamieson, Kang, Kee, Kerzendorfer, Kim, Kiyomitsu, Kiyomitsu, Koch, Kumagai, Kuo, Lancaster, Lavin, Lee, Lee, Lee, Lobrich, Loveday, Loveday, Mahmood, Maréchal, Matsumoto, Matsuoka, Matsuura, Meindl, Mimitou, Mirzaa, Miyoshi, Miyoshi, Moldovan, Morris-Rosendahl, Moshous, Moynahan, Murga, Murray, Musacchio, Mühlhans, Noguchi, Novorol, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Ogi, Orii, Pilaz, Poirier, Ponting, Qvist, Rakic, Rauch, Riballo, Romaniello, Roos, Rudner, Schneider, Shah, Shaheen, Shaheen, Shamseldin, Shen, Shiloh, Sir, Sirbu, Sokka, Spalding, Spassky, Stewart, Stiff, Stokes, Symington, Tan, Thornton, van der Burg, van der Lelij, Varon, Verloes, Walczak, Waltes, Weedon, Weinfeld, Woodbine, Woods, Wu, Zimmerman   +129 more
core   +1 more source

Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. [PDF]

, 2020
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis.
A. Bhide, A. Khalil, A. Kulkarni, B. Thilaganathan, E. Dempsey, F. G. Sileo, Hutchison AA, I. Branescu, Jauniaux E, Norton ME, S. Mansour, Santolaya J, T. Homfray   +12 more
core   +2 more sources

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2

The Turkish Journal of Pediatrics, 2017
Laminin α2 related congenital muscular dystrophy is one of the most common congenital muscular dystrophies of childhood with or without clinical evidence of central nervous system involvement.
Uluç Yiş, Vishal Dixit, Sedat Işıkay, Mert Karakaya, Figen Baydan, Gülden Diniz, İpek Polat, Semra Hız-Kurul, Sebahattin Çırak   +8 more
doaj   +1 more source

Congenital Abnormalities of the Breast [PDF]

Women's Health, 2012
Congenital abnormalities of the breast and chest wall are seen frequently in breast, pediatric and plastic surgery clinics. Management involves a multidisciplinary team approach. The treatment for many of these conditions includes surgical correction.
Dhananjay, Kulkarni, J Michael, Dixon
openaire   +2 more sources

Epidemiology of congenital abnormalities in West Africa: Results of a descriptive study in teaching hospitals in Abidjan: Cote d′Ivoire

African Journal of Paediatric Surgery, 2015
Background: Congenital abnormalities constitute one of the major causes of infant mortality, particularly in developing countries. The aim of this study was to describe the epidemiology of congenital anomalies in Cote d′Ivoire.
Bertin Dibi Kouame, Isabelle Ama N′guetta-Brou, Guy Serge Yapo Kouame, Moufidath Sounkere, Maxime Koffi, Jean Baptiste Yaokreh, Thierry Odehouri-Koudou, Samba Tembely, Gaudens Atafi Dieth, Ossenou Ouattara, Ruffin Dick   +10 more
doaj   +1 more source

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A., Abalı, S., Adal, E., Akın, L., Akıncı, A., Akyürek, N., Andıran, N., Anık, A., Atabek, M.E., Ataş, A., Aydın, B.K., Açıkel, C., Baş, F., Baş, S., Baş, V.N., Bereket, A., Binay, Ç., Bolu, S., Bondy, C., Bulan, K., Büyükinan, M., Can, H.D., Cinaz, P., Darcan, Ş., Darendeliler, F., Demir, K., Demirbilek, H., Demirel, F., Doğan, D., Doğan, M., Döneray, H., Dündar, B., Eklioğlu, B.S., Emeksiz, H.C., Ercan, O., Eren, E., Ersoy, B., Evliyaoğlu, O., Fidancı, K., Gökşen, D., Gül, D., Gürbüz, F., Hatun, Ş., Kaba, S., Kara, C., Karagüzel, G., Keskin, M., Kızılay, D., Orbak, Z., Pirgon, Ö., Polat, A., Poyrazoğlu, Ş., Sarı, E., Sağlam, H., Tarım, Ö., Tepe, D., Topaloğlu, A.K., Turan, S., Yeşilkaya, E., Yüksel, B., Çakır, E.D., Çatlı, G., Çelik, N., Çizmecioğlu, F., Ökten, A., Önal, H., Özbek, M.N., Özen, S., Özgen, T., Özhan, Bayram, Özkan, B., Ünüvar, T., Şen, Y., Şimşek, E.   +73 more
core   +1 more source