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Disorders of Keratinization and Other Genodermatoses
Published in Ayşe Serap Karadağ, Lawrence Charles Parish, Jordan V. Wang, Roxburgh's Common Skin Diseases, 2022
Roselyn Stanger, Nanette Silverberg
Clinical presentation: While epidermal nevi can be an isolated finding, patients can also have a range of extracutaneous finings, with neurologic symptoms being the most common and prominent. Such patients require a thorough history, physical examination, and a meticulous skin examination. For example, Apert syndrome is caused by a mutation in FGFR2 and presents with nevus comedonicus or acneiform nevi, severe and early-onset acne, and skeletal and central nervous system abnormalities.
Common paediatric ENT viva topics
Published in Joseph Manjaly, Peter Kullar, Advanced ENT Training, 2019
Benjamin Hartley, Richard J Hewitt
Apert syndrome: Similar to Crouzon, but finger abnormalities (syndactyly) and increased risk of learning difficulties
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
Described in 1906 by Apert, this syndrome has an incidence of 1: 60 000 live births. Apert syndrome is caused by mutations in FGFR2; two-thirds of cases have the mutation Ser252Trp while the remaining one-third have the Pro253Arg mutation.36 There is an autosomal dominant pattern of inheritance although most cases of Apert syndrome occur without a family history as a result of new mutations and there is a link with advanced paternal age.37 The main features of this condition include craniosynostosis (usually bicoronal), abnormal midfacial development and fusion of the digits of the hands and feet (syndactyly) (Figure 19.6). Abnormalities of the midface and cranium are evident at birth, with brachycephaly and midface retrusion causing an anterior open bite (malocclusion). Cleft soft palate or bifid uvula is present in 30% of cases. Fixation of the stapes footplate may cause a conductive hearing loss. There may be other associated malformations and intellectual ability may vary from normal to significantly impaired.38
Health challenges of mothers with special needs children in Pakistan and the importance of integrating health social workers
Published in Social Work in Health Care, 2020
Sara Rizvi Jafree, Syeda Khadija Burhan
Some mothers described how society was dominated by fatalistic and deterministic attitudes which put pressure on mothers to accept deformities and not try and change or improve conditions. Participants explained how they felt desperate to try and show the value of their child and defy fatalistic attitudes about their child’s social and economic integration. Mothers felt that all their energies were being wasted on social acceptance, instead of focusing on the development and rehabilitation of their SNC. A mother whose son had Apert Syndrome described: I am sick of the Muslim tendency to relinquish control and leave all the planning to Allah. I want to spend my energy helping my child fit into this world that God has created for him. Instead, all my strength is taken trying to change the world and the people around him.
Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology
Published in Fetal and Pediatric Pathology, 2022
Gabriele Tonni, Gianpaolo Grisolia, Maurizia Baldi, MariaPaola Bonasoni, Vladimiro Ginocchi, Liliam Cristine Rolo, Edward Araujo Júnior
Apert Syndrome (AS) is a congenital disorder which represents 3-4.5% of all craniosynostosis and occurs in 1 per 100,000 livebirths [6,7]. AS is characterized by craniosynostosis (coronal sutures are frequently fused causing a tower-like shape of the skull and flattened forehead with flat occiput), midface hypoplasia and symmetric syndactyly of hands and feet. Fetuses with AS have other abnormalities such as proptosis, cleft palate, congenital heart defects, agenesis of the corpus callosum, non-progressive ventricular dilation, and abnormalities of the limbic structures of the brain. Postnatal intelligence may be affected [1,6].