keyword
https://read.qxmd.com/read/36810639/facial-clues-to-the-photosensitive-trichothiodystrophy-phenotype-in-childhood
#1
JOURNAL ARTICLE
Giulia Pascolini, Federica Gaudioso, Marina Baldi, Dario Alario, Francesco Dituri, Antonio Novelli, Anwar Baban
Among genodermatoses, trichothiodystrophies (TTDs) are a rare genetically heterogeneous group of syndromic conditions, presenting with skin, hair, and nail abnormalities. An extra-cutaneous involvement (craniofacial district and neurodevelopment) can be also a part of the clinical picture. The presence of photosensitivity describes three forms of TTDs: MIM#601675 (TTD1), MIM#616390 (TTD2) and MIM#616395 (TTD3), that are caused by variants afflicting some components of the DNA Nucleotide Excision Repair (NER) complex and with more marked clinical consequences...
June 2023: Journal of Human Genetics
https://read.qxmd.com/read/35698205/first-italian-experience-using-the-automated-craniofacial-gestalt-analysis-on-a-cohort-of-pediatric-patients-with-multiple-anomaly-syndromes
#2
JOURNAL ARTICLE
Giulia Pascolini, Mauro Calvani, Paola Grammatico
BACKGROUND: In this study, we used the novel DeepGestalt technology powered by Face2Gene (FDNA Inc., MA, USA) in suggesting a correct diagnosis based on the facial gestalt of well-known multiple anomaly syndromes. Only molecularly characterized pediatric patients were considered in the present research. SUBJECTS AND METHODS: A total of 19 two-dimensional (2D) images of patients affected by several molecularly confirmed craniofacial syndromes (14 monogenic disorders and 5 chromosome diseases) and evaluated at the main involved Institution were analyzed using the Face2Gene CLINIC application (vs...
June 13, 2022: Italian Journal of Pediatrics
https://read.qxmd.com/read/33938623/craniofacial-features-of-3q29-deletion-syndrome-application-of-next-generation-phenotyping-technology
#3
JOURNAL ARTICLE
Bryan C Mak, Rossana Sanchez Russo, Michael J Gambello, Nicole Fleischer, Emily D Black, Elizabeth Leslie, Melissa M Murphy, Jennifer Gladys Mulle
3q29 deletion syndrome (3q29del) is a recurrent deletion syndrome associated with neuropsychiatric disorders and congenital anomalies. Dysmorphic facial features have been described but not systematically characterized. This study aims to detail the 3q29del craniofacial phenotype and use a machine learning approach to categorize individuals with 3q29del through analysis of 2D photos. Detailed dysmorphology exam and 2D facial photos were ascertained from 31 individuals with 3q29del. Photos were used to train the next-generation phenotyping algorithm DeepGestalt (Face2Gene by FDNA, Inc, Boston, MA) to distinguish 3q29del cases from controls and all other recognized syndromes...
July 2021: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/28661575/next-generation-phenotyping-in-emanuel-and-pallister-killian-syndrome-using-computer-aided-facial-dysmorphology-analysis-of-2d-photos
#4
JOURNAL ARTICLE
T Liehr, N Acquarola, K Pyle, S St-Pierre, M Rinholm, O Bar, K Wilhelm, I Schreyer
High throughput approaches are continuously progressing and have become a major part of clinical diagnostics. Still, the critical process of detailed phenotyping and gathering clinical information has not changed much in the last decades. Forms of next generation phenotyping (NGP) are needed to increase further the value of any kind of genetic approaches, including timely consideration of (molecular) cytogenetics during the diagnostic quest. As NGP we used in this study the facial dysmorphology novel analysis (FDNA) technology to automatically identify facial phenotypes associated with Emanuel (ES) and Pallister-Killian Syndrome (PKS) from 2D facial photos...
February 2018: Clinical Genetics
https://read.qxmd.com/read/27356087/familial-recurrence-of-3mc-syndrome-in-consanguineous-families-a-clinical-and-molecular-diagnostic-approach-with-review-of-the-literature
#5
REVIEW
Olivia K Gardner, Karla Haynes, Daniela Schweitzer, Alexis Johns, William P Magee, Mark M Urata, Pedro A Sanchez-Lara
We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology...
November 2017: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/27112773/the-role-of-objective-facial-analysis-using-fdna-in-making-diagnoses-following-whole-exome-analysis-report-of-two-patients-with-mutations-in-the-baf-complex-genes
#6
JOURNAL ARTICLE
Karen W Gripp, Laura Baker, Aida Telegrafi, Kristin G Monaghan
The genetic basis of numerous intellectual disability (ID) syndromes has recently been identified by applying exome analysis on a research or clinical basis. There is significant clinical overlap of biologically related syndromes, as exemplified by Nicolaides-Baraitser (NCBRS) and Coffin-Siris (CSS) syndrome. Both result from mutations affecting the BAF (mSWI/SNF) complex and belong to the growing category of BAFopathies. In addition to the notable clinical overlap between these BAFopathies, heterogeneity exists for patients clinically diagnosed with one of these conditions...
July 2016: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/26663098/recognition-of-the-cornelia-de-lange-syndrome-phenotype-with-facial-dysmorphology-novel-analysis
#7
JOURNAL ARTICLE
L Basel-Vanagaite, L Wolf, M Orin, L Larizza, C Gervasini, I D Krantz, M A Deardoff
Facial analysis systems are becoming available to healthcare providers to aid in the recognition of dysmorphic phenotypes associated with a multitude of genetic syndromes. These technologies automatically detect facial points and extract various measurements from images to recognize dysmorphic features and evaluate similarities to known facial patterns (gestalts). To evaluate such systems' usefulness for supporting the clinical practice of healthcare professionals, the recognition accuracy of the Cornelia de Lange syndrome (CdLS) phenotype was examined with FDNA's automated facial dysmorphology novel analysis (FDNA) technology...
May 2016: Clinical Genetics
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