Results 41 to 50 of about 2,167,838 (317)

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
doaj   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

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

Congenital segmental dilatation of the intestine in extremely low birth weight infants

Journal of Pediatric Surgery Case Reports, 2020
Congenital segmental dilatation of the intestine can arise from various etiologies. Herein, we describe two cases of congenital segmental dilatation of intestine in extremely low birth weight infants of different etiologies, namely muscular abnormalities
Yoichi Nakagawa, Tohru Harada, Yuji Kaneoka   +2 more
doaj   +1 more source

Congenital lung abnormalities on magnetic resonance imaging: the CLAM study [PDF]

, 2023
Bernadette Elders, Casper M. Kersten, Sergei M. Hermelijn, Piotr A. Wielopolski, Harm A.W.M. Tiddens, J. Marco Schnater, Pierluigi Ciet   +6 more
openalex   +1 more source

Congenital Abnormalities of the Breast

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. If
D. Kulkarni, J. Dixon
semanticscholar   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

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
doaj   +1 more source

Persistent Leukoencephalopathy Following H1N1 Infection Associated With a Novel MYRF Variant (p.Gly735Asp)

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu, Leiyun Huang, Wan Zhu, Min Peng, Qiang Gong, Jing Qian   +5 more
wiley   +1 more source

The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma, Ilo Leppik, Thomas Henry, Thaddeus Walczak, Sima Patel, Robert McGovern   +5 more
wiley   +1 more source