Results 71 to 80 of about 4,207 (207)
ABSTRACT Crouzon and Apert syndromes are rare syndromic craniosynostoses frequently associated with craniofacial and dental anomalies, including tooth agenesis. Although individual studies have reported tooth agenesis prevalence data in specific populations, no attempts have been made to systematically synthesise these data.
M. Cecilia Becerril Santos +3 more
wiley +1 more source
Congenital malformations [PDF]
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core +1 more source
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad +8 more
wiley +1 more source
Crouzon syndrome is the most common type of craniofacial dysostosis anomaly which presents a great challenge for clinicians since birth. Multiple synostoses in the sutures of the cranial base in this syndrome result in the hypoplasia of the midface ...
Farnoosh Mohammadi +2 more
doaj +1 more source
Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering [PDF]
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108634/1/bdrc21075 ...
Achilleos +51 more
core +1 more source
Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant
Prenatal Diagnosis, EarlyView.
Haley M. Crane +8 more
wiley +1 more source
This quantitative study identified distinct cranial vault morphologies in Apert and Crouzon syndromes, with a larger anterior fossa in Apert and high variability in Crouzon, reflecting different patterns of suture closure. Abstract Craniosynostoses are congenital conditions characterized by premature suture fusions, altering skull growth and ...
Ombline Delassus +9 more
wiley +1 more source
Crouzon syndrome is an autosomal dominant disease occurs in approximately 1 in 25,000 births, due to a mutation in the fibroblast growth factor receptor 2 gene on chromosome 10 characterized by craniosynostosis, mid-face hypoplasia, hypertelorism, high ...
Veena Ganeriwal +3 more
doaj +1 more source
An Artificial Intelligence System for Staging the Spheno‐Occipital Synchondrosis
ABSTRACT Objective The aim of this study was to develop, test and validate automated interpretable deep learning algorithms for the assessment and classification of the spheno‐occipital synchondrosis (SOS) fusion stages from a cone beam computed tomography (CBCT).
Omid Halimi Milani +8 more
wiley +1 more source
Dowling-Degos Disease: Case Report and Review of the Literature [PDF]
Dowling-Degos disease (DDD) is an unusual pigmentary disorder usually caused by mutations in keratin 5. A 44-year-old woman in good general health presented due to the recent appearance of numerous pigmented macules on her axillary and anogenital skin. A
Baran, Wojciech +3 more
core +1 more source

