Results 21 to 30 of about 2,768 (208)

sj-xlsx-1-cpc-10.1177_10556656221136177 - Supplemental material for A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

, 2022
Supplemental material, sj-xlsx-1-cpc-10.1177_10556656221136177 for A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type by Zulvikar Syambani Ulhaq, Gita Vita Soraya, Lola Ayu Istifiani, Syafrizal Aji Pamungkas, Ditya ...
Lina Fitria Astari (14042497), Muhammad A’raaf Sirojan Kusuma (14042506), Gita Vita Soraya (10909487), Sarah Herawangsa (14042512), Zulvikar Syambani Ulhaq (10909484), Prida Ayudianti (14042503), Lola Ayu Istifiani (12297116), Badariyatud Dini (14042494), Syafrizal Aji Pamungkas (12297119), Ditya Arisanti (14042491), Syifaus Shodry (14042509), Dian Kesumapramudya Nurputra (14042515), William Ka Fai Tse (10889586), Yuliono Trika Nur Hasan (14042500), Sri Idaiani (14042518)   +14 more
core   +1 more source

Prosthetic rehabilitation of a Crouzon patient: A case report

Contemporary Clinical Dentistry, 2010
Crouzon syndrome is a rare genetic disorder, which can be defined as a variation of craniofacial dysostosis caused by the premature obliteration and ossification of two or more sutures.
Hanefi Kurt, Burç Gençel, Aydin C Kader   +2 more
doaj   +1 more source

Functional outcomes in patients with facial dysostosis and severe upper airway obstruction

, 2021
An increased risk of upper airway obstruction (UAO) is seen in up to 95% of patients with facial dysostosis. Secondary to respiratory problems are feeding difficulties and increased nutritional requirements.
Plas, Pleun, Joosten, Koen, Yang, Sumin, Versnel, Sarah, Wolvius, Eppo, Streppel, Marloes, Pullens, Bas, Mathijssen, Irene, Koudstaal, Maarten   +8 more
core   +1 more source

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome

, 2018
The Richieri-Costa-Pereira syndrome (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence ...
Terumi Okada Ozawa, Ary dos Santos Pinto, Zechi-Ceide, Roseli Maria, Adriano Porto Peixoto, Roseli Maria Zechi-Ceide, Oliveira Pinto, Rayane De, Gisele da Silva Dalben, Rayane de Oliveira Pinto, Silva Dalben, Gisele Da, Peixoto, Adriano Porto, Antonio Richieri-Costa, Costa, Antonio Richieri, Ozawa, Terumi Okada, Santos Pinto, Ary Dos [UNESP]   +13 more
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Clinical spectrum of Treacher Collins syndrome

Journal of Oral Biology and Craniofacial Research, 2011
: Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an
Divya Mehrotra, Mahdi Hasan, Rahul Pandey, Sumit Kumar   +3 more
doaj   +1 more source

Mandibulofacial dysostosis with microcephaly: mutation and database update [PDF]

, 2016
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia.
Kline, Antonie D., Harr, Margaret H., Dijk, Fleur S, Center, UCLA Clinical Genomics, Mirzaa, Ghayda M., Boycott, Kym M., Barrowman, Nick, Favaro, Francine P., van Dijk, Fleur S., Scheuerle, Angela E, White, Sue M., Shears, Deborah J, Lildballe, Dorte L., Bulman, Dennis E, Silver, Josh, Hartley, Taila, Quintero‐Rivera, Fabiola, Morel, Chantal F, Meldrum, Cliff, Quintero-Rivera, Fabiola, Joss, Shelagh K., Gripp, Karen W, Pyle, Louise C, Shears, Deborah J., Smith, Amanda C., Smith, Amanda C, Temple, I. Karen, Morton, Jenny EV, Harr, Margaret H, Martinezmoles, Johanna, López‐González, Vanesa, Goel, Himanshu, Hunter, Alasdair GW, Pyle, Louise C., CareRare, Canada, Joss, Shelagh K, Lildballe, Dorte L, Guion-Almeida, Maria Leine, Consortium, Care4Rare Canada, Zou, Ruobing, Johnson, John, Kimball, Amy, van de Kamp, Jiddeke M., Faghfoury, Hanna, Guion‐Almeida, Maria‐Leine, Bulman, Dennis E., White, Sue M, Schönewolf‐Greulich, Bitten, Zackai, Elaine H, Gripp, Karen W., Dabir, Tabib A., Dipple, Katrina M, Dipple, Katrina M., Lauzon, Julie, Dabir, Tabib A, Boycott, Kym M, Gregersen, Pernille A, Kline, Antonie D, Vanstone, Megan R., Dobyns, William B., Hudson, Cindy, Zackai, Elaine H., Favaro, Francine P, Gregersen, Pernille A., Richer, Julie, López-González, Vanesa, Vandersteen, Anthony M., Morton, Jenny E.V., Kini, Usha, Estrella, Jane, Temple, I Karen, de Kamp, Jiddeke M, Grix, Art, Vanstone, Megan R, Schönewolf-Greulich, Bitten, Mirzaa, Ghayda M, Dobyns, William B, Osmond, Matthew, Vandersteen, Anthony M, Baker, Laura, Morel, Chantal F., Lines, Matthew A., Huang, Lijia, Guion-Almeida, Maria-Leine, Hunter, Alasdair G.W., Lines, Matthew A, Allanson, Judith, Scheuerle, Angela E.   +87 more
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Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft. [PDF]

Hum Mutat
The genetic basis of nonsyndromic orofacial cleft (NsOFC) remains elusive, although associations have been identified with various genetic loci. NsOFC has a less pronounced genetic background than syndromic orofacial cleft (SyOFC), albeit Mendelian inheritance has been identified.
Ranji P, Pairet E, Helaers R, Brouillard P, Bayet B, Gerdom A, Revencu N, Vikkula M.   +7 more
europepmc   +2 more sources

Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India

, 2022
Objective Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India. Design The study is a case series.
Shenoy, Rathika D., Menten, BjörnGE31UZGent0019961997768010017113010000-0001-8182-659XF6A4B240-F0ED-11E1-A9DE-61C894A0A6B4, Chakraborty, Anirban, Dheedene, AnneliesUZGent0020022785458020001991879725154900840009-0006-8210-3944F8FBA0DA-F0ED-11E1-A9DE-61C894A0A6B4, Callewaert, BertGE31UZGent0019970956148010018784230000-0002-9743-4205F7333600-F0ED-11E1-A9DE-61C894A0A6B4, Sips, PatrickGE310019960554888010014998200000-0001-9241-59806F1A17A2-B25E-11E6-B104-2D2FD0AF0289, Shetty, Vikram, Chakraborty, Gunimala, De Paepe, AnneGE31UZGent8010004612130000-0002-4134-5940F403A000-F0ED-11E1-A9DE-61C894A0A6B4, Pandyanda Nanjappa, Dechamma   +9 more
core  

A familial case of cleidocranial dysostosis presenting upper limb ischemia

São Paulo Medical Journal
CONTEXT: Upper limb ischemia is not as common as lower limb ischemia but may cause severe impairment or disability if it is misdiagnosed. CASE REPORT: A case of a woman with cleidocranial dysostosis resulting in upper right limb ischemia is presented ...
Walter Campos Júnior, Roberta Murasaki Cardoso, Ronald Fidelis, Erasmo Simão da Silva, Rodrigo Ramos   +4 more
doaj   +1 more source

Cephalometric analysis of hard and soft tissues in a 12-year-old syndromic child: A case report and update on dentofacial features of Crouzon syndrome

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
Crouzon syndrome or craniofacial dysostosis is a rare syndrome characterized by craniosynostosis, midfacial hypoplasia and exophthalmia. The abnormalities found in this syndrome change too much from case to case depending on the suture fusion order.
K Nagaraju, E Ranadheer, P Suresh, S P Tarun   +3 more
doaj   +1 more source