Search results for "Nasal bridge"
showing 3 items of 3 documents
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
2018
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was i…
Sedaghatian congenital lethal metaphyseal chondrodysplasia—observations in a second Iranian family and histopathological studies
1987
In 1980, Sedaghatian described in two brothers and one sister a neonatally lethal disorder associated with slight rhizomelic limb shortness, mild platyspondyly, and severe metaphyseal dysplasia. Here data are presented on another Iranian infant with the Sedaghatian syndrome who died on day 4 and was found to have histologic evidence of severe epimetaphyseal dysplasia. The occurrence in children of both sexes in one instance, born to normal parents who were first cousins, and currently apparent confinement of the disorder to Iranians suggests that the Sedaghatian syndrome is an autosomal recessive trait with high gene frequency in Iranians. This may be a more complexly pleiotropic syndrome t…
Clinical and radiographic features of pycnodysostosis: A case report
2017
Pycnodysostosis is a rare disorder that was first described in 1962; however, it was only in 1996 that the defective gene was discovered, which led to a better understanding of this disease. This study reports and discuss a case of pycnodysostosis. In addition, a search of articles published in PubMed-Medline was performed. The case was a 13-year-old girl who was referred to a private clinic for dental treatment. Clinical examination showed midface hypoplasia, prominent cheeks, a high nasal bridge, beaked nose, spoon-shaped fingers, frontal bossing, open fontanelles and dental alterations, findings compatible with pycnodysostosis. Patients with this disease also suffer from fractures becaus…