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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
Saethre–Chotzen syndrome was first described in 1931. This is an extremely variable autosomal dominant condition, although abnormalities may be milder than in other syndromic craniosynostosis conditions. Because of this, a mildly affected parent may not be aware that they also have the condition until after their more obviously affected child is diagnosed. The most commonly affected suture is the coronal suture and the craniofacial abnormalities are frequently asymmetric. Associated features may include ptosis, a low anterior hairline, small ears with a prominent horizontal crus, mild cutaneous syndactyly and broad thumbs and great toes. Mutations in the gene TWIST1 cause Saethre–Chotzen syndrome but the phenotype has also been seen in association with the Pro250Arg mutation in FGFR3 and with TCF12 mutations.43–45
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
Syndromes with craniosynostosis: Carpenter syndrome (p. 415); Cole-Carpenter syndrome – osteogenesis imperfecta with cranial synostosis; thanatophoric dysplasia (pp. 32–46); craniofrontonasal syndrome: coronal synostosis and frontonasal dysplasia (severe hypertelorism, broad bifid nose, asymmetric frontal bossing), occasionally cleft lip and palate, neck webbing, abnormal clavicles, cutaneous syndactyly and hypoplastic fingers and toes. More severe in females. X-linked dominant, caused by mutations in EFNB1. Saethre-Chotzen syndrome: coronal synostosis, facial asymmetry, ptosis, characteristic appearance of the ear (small pinna with a prominent crus), syndactyly of digits II-III of the hand. Occasionally: short stature, parietal foramina, radioulnar synostosis, cleft palate, heart malformations. Dominant mutations in TWIST1 are causative. Baller-Gerold syndrome: coronal or multiple sutures synostosis, radial aplasia, absent thumb, short and bowed ulna, absent carpal and metacarpal bones. Occasionally ocular hypertelorism, epicanthic folds, prominent nasal bridge, midline capillary haemangiomas, genitourinary malformations, mental retardation. Caused by mutations of the gene RECQL4. Fluconazole embryopathy: craniosynostosis due to coronal and lambdoid suture closures, shallow orbits, hypoplastic supraorbital ridges, hypertelorism, mild ptosis, radioulnar synostosis, metacarpophalangeal symphalangism.
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
To the best of our knowledge, this is the second case of Apert syndrome diagnosed early in the second trimester of pregnancy (19 weeks) as previously reported by Pooh et al. [10]. In the case reported by Pooh. et al. [10] the molecular analysis demonstrated a Ser252Trp mutation at the level of the FGFR2 gene; however, no chondral histology of the bone or additional imaging other than ultrasound was described. In addition, two other cases have been described in the medical literature, one diagnosed at 22 weeks [11] and the other seen at 21 weeks and confirmed at 23 weeks by MRI and ultrasound [12]. In both cases, genomic DNA confirmed the prenatal diagnosis of Apert syndrome. Apert syndrome should be differentiated with another craniosynostosis called Saethre-Chotzen syndrome (SCS). The latter is genetically due to a microdeletion affecting the chomosome 7 at locus p21. Phenotypically, SCS is characterized by symmetrical or asymmetrical craniosynostosis resulting from premature closure of the coronal suture compared to the premature closure of the metopic sutures as seen in Apert syndrome. Similarly to Apert syndrome, syndactyly is usually an associated finding.