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Craniofacial Surgery
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Benjamin Robertson, Sujata De, Astrid Webber, Ajay Sinha
This condition is characterized by craniosynostosis which is usually coronal, frontonasal dysplasia, curly or frizzy hair, sloping shoulders and ridged nails. As part of the frontonasal dysplasia there is hypertelorism, a broad nasal bridge and, occasionally, a bifid nasal tip. There may also be skeletal anomalies such as joint hyperextensibilty, scoliosis and broad toes. Mutations in the gene EFNB1 are causative.47 The inheritance is X-linked dominant whereby females are more severely affected than males.
Growth of the Orbit
Published in D. Dixon Andrew, A.N. Hoyte David, Ronning Olli, Fundamentals of Craniofacial Growth, 2017
Frontonasal dysplasia need not always produce hypotelorism. Sometimes the aberration may result in deficient “frontation” of the developing eyes, with hypertelorism the result — another wide spectrum of disorders (Gorlin, in Bergsma, 1969; Cohen et al., in Bergsma, 1971; Ortiz Monasterio et al., 1990). Hypertelorism may sometimes be a part of facial or cranial clefting (Tessier, 1972).
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Frontonasal dysplasia is also present in: acro-fronto-facio-nasal dysostosis – recessive disorder, with postaxial camptobrachypolysyndactyly; craniofrontonasal dysplasia – X-linked dominant, combines frontonasal dysplasia with craniosynostosis, intelligence is usually normal. Brachycephalofrontonasal dysplasia – dominant disorder with normal intelligence and stature, short hands but no polydactyly.
Morning Glory Disc Anomaly with Contractile Peripapillary Staphyloma in an 18-Month-Old Girl
Published in Neuro-Ophthalmology, 2021
Kalina Trifonova, Kiril Slaveykov
In addition to the classic descriptions of peripapillary staphyloma and MGDA intermediate forms have been observed by other authors as well.17–19 Kumar et al. supported the theory that these two excavated disc anomalies represent two different morphologies in the spectrum of the same disease.18 A case series of patients with frontonasal dysplasia and basal encephaocele reported by Hodgkins et al. revealed that all patients had either peripapillary staphyloma or MGDA abnormalities. The authors suggested that these disc abnormalities have similar embryological origins.20 The case we reported is another example that there might be a connection between the two structural anomalies of the optic disc considered unrelated by most authors.
Ophthalmic abnormalities of Pai syndrome: A case report and review of literature
Published in Ophthalmic Genetics, 2018
First described in 1987, Pai syndrome is an uncommon frontonasal dysplasia with a clinical constellation of three anomalies—midline orofacial cleft, cutaneous facial polyps, and pericallosal lipomas (8). In 1990, Reardon et al. proposed a broader definition of the syndrome consisting of only two obligate criteria: median cleft upper lip and midline lipomas (9). However, additional cases presenting with the original phenotype support the triad established by Pai et al. (1,10)