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Rubinstein−Taybi Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Except for Muenke syndrome and FGFR2-related isolated coronal synostosis, all FGFR-related craniosynostosis syndromes show bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings. On the other hand, Muenke syndrome and FGFR2-related isolated coronal synostosis have uni- or bicoronal craniosynostosis only. Muenke syndrome (or FGFR3-related coronal synostosis) is further distinguished by the presence of a pathogenic variant in FGFR3, and likewise, FGFR2-related isolated coronal synostosis harbors a pathogenic variant in FGFR2.
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
Ventricular dilatation is a rare occurrence in non-syndromic craniosynostosis and in such cases hydrocephalus, if noted, is attributable to any coexisting disorder. However, it is a common feature of syndromic craniosynostosis and seen in nearly half the cases.60 While non-progressive ventriculomegaly is seen commonly in Apert syndrome, it seldom requires CSF diversion. On the contrary, in Crouzon and Pfeiffer syndrome, ventriculomegaly is progressive and requires CSF diversion in most cases, despite early posterior vault expansion procedures. Patients with Saethre–Chotzen and Muenke syndrome are seldom affected by hydrocephalus.
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
Differential diagnosis: other disorders with deafness and broad thumbs and halluces include Keutel syndrome – shows distinctive facial features and abnormal cartilage calcification; Teunissen-Cremers syndrome – conductive deafness is typically due to stapes ankylosis, also shows fused cervical vertebrae and symphalangism. The hallmark of Muenke syndrome is craniosynostosis.
Health-related quality of life in hearing-impaired adolescents and children
Published in Acta Oto-Laryngologica, 2018
Riina Niemensivu, Risto Paavo Roine, Harri Sintonen, Erna Kentala
The study population consisted of 50 hearing-impaired adolescents and 50 hearing-impaired children. Adolescents had a mean age of 14.1 years (range 12–17 years), and there were 25 boys and 25 girls. Children had a mean age of 8.5 years (range 7–11 years), with 26 boys and 24 girls. Of the participants, 37 (37%) had mild HL, 38 (38%) moderate HL, and 25 (25%) severe HL. Most had binaural hearing aids (63%), the remainder only one hearing aid at the time of the survey. Table 1 presents the demographics of the hearing-impaired adolescents and children. Most adolescents (n = 37) and children (n = 40) had behind-the-ear hearing aids, and two adolescents and four children had bone-anchored hearing aids (BAHAs). Ear-canal hearing aids were used by seven adolescents and two children. Cochlear implants were also used by four adolescents and two children. For some reason, two children did not use hearing aids despite HL. The vast majority of hearing-impaired adolescents and children (93%) attended mainstream schools as integrated students. The seven students whose school placement was a special school for the deaf and hard of hearing all had some additional disabilities (two CHARGE syndrome, one Muenke syndrome, one epilepsy, one atetosis, one visus problem, and one migraine).