Results 61 to 70 of about 615,013 (286)

Hydrolethalus Syndrome: A Case of a Rare Congenital Disorder

Diagnostics
This is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn’s phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral
Valerica Belengeanu, Diana Marian, Horia Ademir Stana, Carolina Cojocariu, Cristina Popescu, Ioana Elena Lile   +5 more
doaj   +1 more source

Cadaveric kidney transplantation in an ESRD patient with Klippel–Feil syndrome—A case report

Clinical Case Reports, 2023
Klippel–Feil syndrome (KFS) is a congenital skeletal disorder with classic clinical triad consisting of short neck, low hairline, and limitation of neck movement.
Hossein Dialameh, Farshad Namdari, Farhad Etezadi, Seyed Hassan Inanloo, Seyed Hamid Mousavi, Hormat Rahimzadeh, Mohammad Javad Nazarpour   +6 more
doaj   +1 more source

Effect of increasing docosahexaenoic acid content in weaning diets on survival, growth and skeletal anomalies of longfin yellowtail (Seriola rivoliana, Valenciennes 1833) [PDF]

, 2017
Five isoproteic (54.8%) and isolipidic (24.1%) microdiets, which varied in their docosahexaenoic acid (DHA) content (0.25, 0.75, 1.64, 1.99 and 3.17%; dw), were manufactured to determine its effects on longfin yellowtail Seriola rivoliana larvae in terms
Antonio Mesa-Rodriguez, Mesa-Rodriguez, Antonio, Izquierdo, Marisol S, Roo, Javier, Hernandez-Cruz, Carmen Maria, Betancor, Monica, Betancor Quintana, Mónica Beatriz, Izquierdo, Marisol S., Javier Roo, Carmen Maria Hernández-Cruz, Mónica Beatriz Betancor, Hipólito Fernández-Palacios, Fernández-Palacios, Hipolito, Marisol S Izquierdo   +13 more
core   +1 more source

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Bilateral Femoral Duplication and Fibular Agenesis Associated with Bilateral Lower Limb Ectrodactyly: A Rare Case Report

International Journal of Anatomy Radiology and Surgery, 2018
Limb deficiency disorders are rare, aetiologically heterogeneous skeletal dysplasias, they may occur as an isolated anomaly or as a part of syndrome.
Chetan M, Santosh Reddy Patil, Bharathi M, Vamshi Krishna, Ravi Garg   +4 more
doaj   +1 more source

Vertebral anomalies and spinal malformations in myelomeningocele

, 2008
Associated spinal cord anomalies and vertebral anomalies significantly affect the prognosis of children with myelomeningocoele. The problem is that vertebral anomalies will eventually lead to skeletal deformities that increase the complexity of the ...

core   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Expanding the Chemical Space of Analytes in the 2G Crystalline Sponge Method: Size‐Compensation Strategy for the Structural Analysis of Low‐Polarity Small Molecules

Angewandte Chemie, EarlyView.
The accessible chemical space of second‐generation crystalline sponges (2G‐CSs) is extended to low‐polarity small molecules via a modulator‐enabled strategy. The key is the size compensation between guest and modulator to achieve a snug fit within the cage cavity.
Wei He, Luc Soliman, Hiroki Takezawa, Makoto Fujita   +3 more
wiley   +2 more sources

Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases

Frontiers in Genetics
This study assessed the diagnostic effectiveness of trio-WES compared to CMA in fetuses with ultrasound anomalies and explored optimal prenatal testing strategies. A retrospective review included 454 fetuses who underwent trio-WES and/or CMA between 2020
Dongyi Yu, Dongyi Yu, Dongyi Yu, Dairong Feng, Dairong Feng, Dairong Feng, Jiangbo Qu, Jiangbo Qu, Jiangbo Qu, Lei Nie, Qian Liu, Lu Gao, Lu Gao, Lu Gao, Wenzhen An, Na Liu, Na Liu, Na Liu, Yuying Fang, Yuying Fang, Yuying Fang   +20 more
doaj   +1 more source

STAT3-Mediated Transcriptional Regulation of Osteopontin in STAT3 Loss-of-Function Related Hyper IgE Syndrome

Frontiers in Immunology, 2018
BackgroundHyper-IgE syndrome (HIES) caused by loss-of-function (LOF) mutations in STAT3 gene (STAT3 LOF HIES) is associated with dental and facial abnormalities in addition to immunological defects.
Shubham Goel, Smrity Sahu, Ranjana W. Minz, Surjit Singh, Deepti Suri, Young M. Oh, Amit Rawat, Shobha Sehgal, Biman Saikia   +8 more
doaj   +1 more source