Abstract
Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous syndactyly, and various skeletal abnormalities. We studied in detail the neurological, EEG, and neuroradiological features of a group of 11 (6 male, 5 female) patients with Saethre-Chotzen syndrome. Four subjects were affected by seizures; they had paroxysmal EEG abnormalities, and gross neuroimaging revealed destructive brain lesions or malformations. Our findings suggest that CNS involvement in Saethre-Chotzen syndrome might be more severe than previously reported and support the wider use of neurophysiological and neuroimaging techniques in the study of children with this syndrome.
Similar content being viewed by others
References
Aase J, Smith D (1970) Facial asymmetry and abnormalities of palms and ears: a dominantly inherited developmental syndrome. J Pediatr 76: 928–930
Bartsocas C, Weber A, Crawford J (1970) Acrocephalosyndactyly type III: Chotzen's syndrome. J Pediatr 77: 267–272
Bianchi E, Aricò M, Podestà AF, Grana M, Fiori P, Beluffi G (1985) A family with the Saethre-Chotzen syndrome. Am J Med Genet 22: 649–658
Brueton LA, Herwerden L van, Chotai, Winter RM (1992) The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet 29: 681–685
Chotzen F (1932) Eine eigenartige familiäre Entwicklungsstörung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus). Monatschr Kinderheilkd 55: 97–122
Escobar V, Brandt I, Bixler D (1977) Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. Clin Genet 11: 365–371
Etzioni A, Obedeanu N, Benderly A, Gershoni-Baruch R (1990) Saethre-Chotzen syndrome associated with defective neutrofil chemotaxis. Acta Paediatr Scand 79: 375–379
Evans CA, Christiansen L (1976) Cephalic malformations in Saethre-Chotzen syndrome. Radiology 121: 399–403
Francke U, Gonzales Y, Rivera EL, Delgado CG, Ramos MG (1977) Saethre-Chotzen syndrome (SCS) with additional abnormalities in a Mexican family. Birth Defects 13: 241
Friedman J, Hanson J, Graham B, Smith D (1977) Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. J Pediatr 91: 929–933
Gabrielli O, Moroni E, Barbato M, Pierleoni C, Felici L (1989) Acrocefalosindattilia tipo III (S. Saethre-Chotzen). Descrizione di due casi. Pathologica 81: 295–300
Galluzzi F, Salti R, Marianelli L, La Cauza C (1980) La sindrome di aethre-Chotzen. Min Pediatr 32: 326–328
Gellis SS, Feingold M (1975) Picture of the month. Acrocephalosyndactyly type Saethre-Chotzen syndrome. Am J Dis Child 129: 227–228
Gorlin RJ, Cohen MM Jr, Levin LS (1990) Syndromes of the head and neck. Oxford University Press, Oxford
Kopysc Z, Stanska M, Rysko J, Kulczyk B (1980) The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Hum Genet 56: 195–204
Kreiborg S, Pruzansky S, Pashayan H (1972) The Saethre-Chotzen syndrome. Teratology 6: 287–294
Marchesi A, Leoni R (1993) Denti conoidi multipli associati ad acrocefalosindattilia. Una variante della sindrome di Saethre-Chotzen? Minerva Stomatol 42: 169–172
Niemann-Seyde SC, Eber SW, Zoll B (1991) Saethre-Chotzen syndrome (ACS III) in four generations. Clin Genet 40: 271–276
Pantke O, Cohen M, Witkop C, Feingold M, Schaumann B, Pantke H, Gorlin R (1975) The Saethre-Chotzen syndrome. Birth Defects 11: 190–225
Saethre H (1931) Ein Beitrag zum Turmschädelproblem (Pathogenese, Erblichkeit und Symptomologie). Dtsch Z Nervenheilkd 117: 533–555
Thompson EM, Baraitser M, Hayward RD (1984) Parietal foramina in Saethre-Chotzen syndrome. J Med Genet 21: 369–372
Waardenburg PJ (1934) Eine merkwürdige Kombination von angeborenen Mißbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrocephalosyndaktylie. Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klin Monatsbl Augenheilkd 92: 29–44
Young ID, Swift PGF (1985) Parietal foramina in the Saethre-Chotzen syndrome. J Med Genet 22: 413–414
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Elia, M., Musumeci, S.A., Ferri, R. et al. Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study. Child's Nerv Syst 12, 699–704 (1996). https://doi.org/10.1007/BF00366154
Issue Date:
DOI: https://doi.org/10.1007/BF00366154