Results 31 to 40 of about 1,837 (195)

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

History and highlights of the teratological collection in the Narrenturm, Vienna (Austria)

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1301-1324, May 2023., 2023
Abstract The collection of the Narrenturm in Vienna houses and maintains more than 50,000 objects including approximately 1200 teratological specimens; making it one of the biggest collections of specimens from human origin in Europe. The existence of this magnificent collection―representing an important resource for dysmorphology research, mostly ...
Lucas L. Boer, Susanne Gerit Kircher, Helga Rehder, Jana Behunova, Eduard Winter, Helmut Ringl, Anke Scharrer, Elke de Boer, Roelof‐Jan Oostra   +8 more
wiley   +1 more source

Transcriptome profiling reveals expression signatures of cranial neural crest cells arising from different axial levels [PDF]

, 2017
Background: Cranial neural crest cells (NCCs) are a unique embryonic cell type which give rise to a diverse array of derivatives extending from neurons and glia through to bone and cartilage.
Buckberry, S., Lawrence, D., Lumb, R., Schwarz, Q., Secker, G.   +4 more
core   +1 more source

Optic disc anomalies and frontonasal dysplasia [PDF]

British Journal of Ophthalmology, 1998
To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele.Names and hospital numbers of patients with midline clefts were obtained from the ophthalmology and genetics database. Six patients were identified who had the following common findings: midline facial cleft with midline cleft lip and
P, Hodgkins, M, Lees, J, Lawson, W, Reardon, J, Leitch, P, Thorogood, R M, Winter, D S, Taylor   +7 more
openaire   +2 more sources

Baraitser-Winter cerebrofrontofacial syndrome [PDF]

, 2016
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems.
Baraitser, Belyantseva, Bergeron, Bunnell, Bunnell, Cheever, Der Kaloustian, Di Donato, Di Donato, Drummond, Dugina, Dugina, Fletcher, Forbes, Fryns, Gearing, Ghosh, Gomez, Guion-Almeida, Hundt, Johnston, Karakozova, Koçak Eker, Lohr, Perrin, Perrin, Poirier, Ramer, Rendtorff, Retterer, Rivière, Rossi, Skalicky, Sonnemann, Stern, Verloes, Wijk, Winter, Yamazaki, Zhang   +39 more
core   +2 more sources

Ethical side of decision-making on palliative care to a child with congenital heart disease associated with frontonasal dysplasia

Российский кардиологический журнал, 2023
In the practice of pediatric cardiology, situations are possible when a child with congenital heart disease cannot be subjected to radical or even hemodynamic surgery.
O. I. Taratukhin, E. V. Polevichenko, K. A. Zamyatin, O. V. Kozhevnikova, E. Yu. Sapego   +4 more
doaj   +1 more source

Cellular interference in craniofrontonasal syndrome: Males mosaic for mutations in the x-linked EFNB1 gene are more severely affected than true hemizygotes [PDF]

, 2013
Craniofrontonasal syndrome (CFNS), an X-linked disorder caused by loss-of-function mutations of EFNB1, exhibits a paradoxical sex reversal in phenotypic severity: females characteristically have frontonasal dysplasia, craniosynostosis and additional ...
Akha, E.S. (Elham Sadighi), Babbs, C. (Christian), Brunner, H.G., Elzen, M.E.P. (Marijke) van den, Giannoulatou, E. (Eleni), Goriely, A. (Anne), Hoogeboom, A.J.M. (Jeannette), Knight, S.J.L., Lonie, L. (Lorne), Mathijssen, I.M.J. (Irene), Mcgowan, S.J. (Simon), Passos-Bueno, M.R., Pober, B.R. (Barbara), Ragoussis, J. (Jiannis), Taylor, S. (Stephen), Toriello, H.V. (Helga), Twigg, S.R.F. (Stephen), Wall, S.A. (Steven), Wilkie, A.O.M. (Andrew), Zechi-Ceide, R.M. (Roseli Maria)   +19 more
core   +1 more source

A case of Poland Syndrome associated with dextroposition [PDF]

, 2010
Classical Poland Syndrome (PS) is characterized by unilateral, partial or complete absence of the sternocostal head of the major pectoral muscle and brachysyndactyly of fingers on the same side.
Doriana Lacorte, Maria Marsella, Pietro Guerrini   +2 more
core   +1 more source

Bilateral Periventricular Nodular Heterotopia

Pediatric Neurology Briefs, 1998
Two unrelated boys, ages 8 and 5 years, with a syndrome of bilateral periventricular nodular heterotopia (BPNH), regional cortical dysplasia, mild mental retardation, and frontonasal malformation (FNM) are reported from the Instituto di Neuropsychiatria ...
J Gordon Millichap
doaj   +1 more source

What the time has taught about Hyperteleorbitism

Archives of Pediatric Neurosurgery, 2022
Introduction: Hypertelorbitism is a clinical feature that may be present in various types of pathologies and  degrees of manifestation. Observing the evolution of techniques over time and understanding the specific characteristics of each case ...
Vera Lúcia Nocchi Cardim, Alessandra Silva   +1 more
doaj   +1 more source