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 +23 more
core +5 more sources
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 +2 more
core +2 more sources
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 +3 more
doaj +1 more source
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 +3 more
doaj +1 more source
The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]
, 2016 Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A. +3 more
core +3 more sources
An unusual case of rudimentary parotid gland with distended Stensen duct [PDF]
, 2010 Congenital absence or rudiment major salivary glands, especially of the parotid glands, are a rare entity. Aplasia of parotid glands has been described alone or in association with abnormalities of other salivary glands, first branchial arch ...
Jigna, V.R. +3 more
core +1 more source
Orthodontic and surgical rehabilitation children with Treacher Collins syndrome [PDF]
, 2022 Rezumat. Sindromul Treacher Collins (TCS) este o tulburare autozomal dominantă rară a dezvoltării cranio-faciale. Este o malformaţie congenitală a primului şi celui de-al doilea arc branial care poate afecta dimensiunea şi forma urechilor ...
Ciobanu, Galina, Railean, Silvia
core +1 more source
Anesthetic Management of Patient for Case with Apert Syndrome
Haseki Tıp Bülteni, 2018 Apert syndrome is an autosomal dominant inherited mandibulofacial dysostosis characterized by craniosynostosis, syndactyly, high forehead, broad nose, maxillary hypoplasia, synostosis of cervical vertebrae, organ malformations, and mental retardation. It
Gamze Küçükosman +3 more
doaj +1 more source
Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins Syndrome. [PDF]
, 1997 Ptx1 belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies. We report the chromosomal
Barbara Beatty +8 more
core +4 more sources
Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction
Journal of Advanced Pharmaceutical Technology & Research, 2016 Drug reactions are a group of reactionary lesions generally show their manifestations in the oral cavity. The drug reactions may vary from local rashes to well-developed swellings in the oral cavity especially involving the gingiva.
Syed Ahamed Raheel +4 more
doaj +1 more source