Oral-Facial-Digital Syndrome Type 1: Oral Findings in a 6-Year-Old Girl.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric genetics"
DOI: 10.1055/s-0037-1618601
Abstract: Oral-facial-digital syndrome (OFDS) is a group of congenital anomalies with 13 different forms. OFDS type 1 (OFDS1) is a developmental genetic anomaly related to the X chromosome, that is often seen in girls, and affects… read more here.
Keywords: digital syndrome; findings year; oral facial; facial digital ... See more keywords
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome
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DOI: 10.1097/md.0000000000019169
Abstract: Abstract Introduction: KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities. Patient concerns: Patients 1 and 2 were two… read more here.
Keywords: rib; short rib; oral facial; rib polydactyly ... See more keywords
Oral-facial kinematics and configuration drive asymmetries in visual vowel perception
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Acoustical Society of America"
DOI: 10.1121/1.4989315
Abstract: Masapollo, Polka, and Menard (2016) have recently reported that adults show robust directional asymmetries in unimodal visual-only vowel discrimination: a change from a relatively less to a relatively more peripheral vowel (in F1-F2 articulatory vowel… read more here.
Keywords: visual vowel; vowel; oral facial; kinematics ... See more keywords
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2016-104436
Abstract: Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list… read more here.
Keywords: years research; oral facial; digital syndromes; fifteen years ... See more keywords
Oral-Facial-Digital Syndrome Type 1: A Case Report and Review
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DOI: 10.5021/ad.2022.34.2.132
Abstract: Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of… read more here.
Keywords: facial digital; syndrome type; oral facial; digital syndrome ... See more keywords