Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies—a new syndrome?
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De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
2017, American Journal of Human GeneticsCitation Excerpt :Gorlin-Chaudhry-Moss syndrome (GCMS [MIM: 233500]) is a rare condition with a distinctive facial gestalt due to coronal craniosynostosis, maxillary hypoplasia, and microphthalmia leading to narrow palpebral fissures.1
Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome - A case report
2011, Journal of Cranio-Maxillofacial SurgeryCitation Excerpt :In 1960, Gorlin, Chaudhry and Moss described a syndrome consisting of craniofacial dysostosis in association with hypertrichosis, cardiac, genital, dental and ocular anomalies (Gorlin et al., 1960).
Hypertrichosis
2003, Journal of the American Academy of DermatologyCongenital craniofacial anomalies of ophthalmic importance
1990, Survey of OphthalmologyHypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes
1975, Oral Surgery, Oral Medicine, Oral PathologyDefining the progeria phenome
2024, Aging
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Address, Department of Oral Pathology, University of Minnesota School of Dentistry, Minneapolis 14, Minn.
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