Results 21 to 30 of about 1,356 (192)

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort. [PDF]

Clin Genet
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Aubert Mucca M, Brunelle P, Doco Fenzy M, Vanlerberghe C, Dieux A, Feyereisen L, Jobic F, Lode L, Le Guyader G, Petit F, Schaefer E, Zaafrane-Khachnaoui K, Ziegler A, Patat O.   +13 more
europepmc   +2 more sources

Laryngeal mask ventilation in patient with Treacher Collins syndrome [PDF]

, 2021
Introduction: Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development.Case description: A 5-year-old female patient (weight 16.8 kg, height 106 cm), ASA III, was admitted to our hospital for plastic surgery of the ...
Marinov, Ts.
core   +2 more sources

Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life

Sleep Science, 2023
Objectives This study aimed at evaluating the risk for obstructive sleep apnea (OSA) and its frequency in adults with Treacher Collins syndrome (TCS).
Leide Vilma Fidélis-da Silva, Sergio Henrique Kiemle-Trindade, Maria Noel Marzano-Rodrigues, Laís Hollara Medeiros, Cristiano Tonello, Ivy Kiemle Trindade-Suedam   +5 more
doaj   +1 more source

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations [PDF]

, 2013
Background: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as ...
Albrecht, Beate, Brunner, Han G, Callewaert, Bert, Czeschik, Johanna Christina, Falkenberg Smeland, Marie, Frostad Riise Stensland, Hilde Monica, Hehr, Andreas, Hehr, Ute, Kuechler, Alma, König, Rainer, Lüdecke, Hermann-Josef, Marcelis, Carlo, Martin, Marcel, Mégarbane, André, Neveling, Kornelia, Puiu, Maria, Rahmann, Sven, Reardon, Willie, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Voigt, Claudia, von Deimling, Florian, Wieczorek, Dagmar   +23 more
core   +5 more sources

An automatic facial landmarking for children with rare diseases

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1210-1221, May 2023., 2023
Abstract Two to three thousand syndromes modify facial features: their screening requires the eye of an expert in dysmorphology. A widely used tool in shape characterization is geometric morphometrics based on landmarks, which are precise and reproducible anatomical points. Landmark positioning is user dependent and time consuming.
Quentin Hennocq, Thomas Bongibault, Matthieu Bizière, Ombline Delassus, Maxime Douillet, Valérie Cormier‐Daire, Jeanne Amiel, Stanislas Lyonnet, Sandrine Marlin, Marlène Rio, Arnaud Picard, Roman Hossein Khonsari, Nicolas Garcelon   +12 more
wiley   +1 more source

Nager′s acrofacial dysostosis

Journal of Orofacial Sciences, 2013
Acrofacial dysostosis (AFD) is a generic name for a variety of different but possibly related genetic disorders that result in craniofacial and limb malformations and are, therefore, categorized under oroacral disorders.
Arpita Rai, Kirty R Nandimath, Atul P Sattur, Venkatesh G Naikmasur   +3 more
doaj   +1 more source

Awareness about Patterson syndrome among dental students

Journal of Advanced Pharmaceutical Technology & Research, 2022
The aim is to create awareness about Patterson syndrome among dental students. Patterson-Stevenson-Fontaine syndrome is a very rare condition marked by irregular facial bone and tissue growth (mandibulofacial dysostosis) as well as limb abnormalities.
M Dhakshinya, Vishnu Priya Veeraraghavan, R Gayathri, S Kavitha   +3 more
doaj   +1 more source

Treacher Collins syndrome-a case report and review of literature [PDF]

, 2011
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900 ...
Baldawa, Rahul, Kasat, Vikrant O.
core   +1 more source

Familial treacher collins syndrome- from an obstetrician’s view [PDF]

, 2021
A number of genetic syndromes have been identified and can be diagnosed antenatally using ultrasonography signifying the importance of antenatal care.
Rajurkar, Kishore, Saini, Chesta, Saini, Rizul   +2 more
core   +2 more sources

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source