Results 51 to 60 of about 9,936 (230)

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

Journal of Oral Biology and Craniofacial Research, 2014
Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is ...
Monika Koul, Rahul Dwivedi, Vinod Upadhyay   +2 more
doaj  

Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab

Pediatric Dermatology, EarlyView.
ABSTRACT We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports.
Danielle Marcoux, Sophie‐Anne Savard, Victor Kokta, Elsa Rossignol, Luis H. Ospina   +4 more
wiley   +1 more source

Convolutional neural networks for automatic detection of Focal Cortical Dysplasia [PDF]

arXiv, 2020
Focal cortical dysplasia (FCD) is one of the most common epileptogenic lesions associated with cortical development malformations. However, the accurate detection of the FCD relies on the radiologist professionalism, and in many cases, the lesion could be missed.
arxiv  

Infant hip screening using multi-class ultrasound scan segmentation [PDF]

arXiv, 2022
Developmental dysplasia of the hip (DDH) is a condition in infants where the femoral head is incorrectly located in the hip joint. We propose a deep learning algorithm for segmenting key structures within ultrasound images, employing this to calculate Femoral Head Coverage (FHC) and provide a screening diagnosis for DDH.
arxiv  

Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF

Pediatric Dermatology, EarlyView.
ABSTRACT Marie Unna hereditary hypotrichosis 1 (MUHH1) is a rare autosomal dominant condition characterized by the absence or scarcity of hair at birth with the growth of coarse, wiry, and unruly hair during childhood and progressive hair loss after puberty.
Sarah Østergaard Holm, Lise Graversen, Anne Katrine Wrist Simonsen, Jenny Blechingberg, Laura Krogh Herlin, Kirsten Rønholt   +5 more
wiley   +1 more source

Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up

Case Reports in Dentistry, 2020
Ectrodactyly-ectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactyly-ectodermal dysplasia and facial clefting of lip or palate or both along with some systemic manifestations. Although each defect that
Anamika Bharati, Saumya Navit, Suleman Abbas Khan, Seema Jabeen, Nishi Grover, Meenakshi Upadhyay   +5 more
doaj   +1 more source

Semi-Supervised Cervical Dysplasia Classification With Learnable Graph Convolutional Network [PDF]

arXiv, 2020
Cervical cancer is the second most prevalent cancer affecting women today. As the early detection of cervical carcinoma relies heavily upon screening and pre-clinical testing, digital cervicography has great potential as a primary or auxiliary screening tool, especially in low-resource regions due to its low cost and easy access.
arxiv  

Deep Learning-Based Automatic Diagnosis System for Developmental Dysplasia of the Hip [PDF]

arXiv, 2022
Objective: The clinical diagnosis of developmental dysplasia of the hip (DDH) typically involves manually measuring key radiological angles -- Center-Edge (CE), Tonnis, and Sharp angles -- from pelvic radiographs, a process that is time-consuming and susceptible to variability.
arxiv  

Microphthalmia with multiple ocular abnormalities in a foal

Veterinary Ophthalmology, EarlyView.
Abstract Objective The aim of this report was to provide a clinical description and clinical, ultrasonographic, and histologic images of a foal with microphthalmia and multiple ocular abnormalities. Animals Studied A 12‐h old Friesian‐American Paint Horse crossbred filly presented for blindness, microphthalmia and marked ventral strabismus in both eyes.
Peter W. Cho, Shin Ae Park, Dodd Sledge, Rachael Gruenwald, Wendy M. Townsend   +4 more
wiley   +1 more source

Simultaneous Nuclear Instance and Layer Segmentation in Oral Epithelial Dysplasia [PDF]

arXiv, 2021
Oral epithelial dysplasia (OED) is a pre-malignant histopathological diagnosis given to lesions of the oral cavity. Predicting OED grade or whether a case will transition to malignancy is critical for early detection and appropriate treatment. OED typically begins in the lower third of the epithelium before progressing upwards with grade severity, thus
arxiv