Abstract
A family study was based on 184 consecutive patients who had undergone surgery for craniosynostosis at The Hospital for Sick Children, London, between 1953 and 1976. Of these, 127 were traced and visited and are the probands for this study. Crouzon syndrome was recognised in 16, Apert in 11, Saethre-Chotzen in nine, and Pfeiffer in two. In addition, two probands had Saethre-Chotzen-like facies and bilaterally broad big toes owing to partial or complete duplication of the distal phalanx. This syndrome is distinct from Pfeiffer syndrome, in which the facies more closely resembles that in Crouzon syndrome and in which it is the proximal phalanx of the big toe (and often of the thumb) which is abnormal. It is suggested that this newly recognised syndrome be called after Robinow and Sorauf, who appear to be the first to have described a family with the condition. One proband with coronal stenosis had a mother and brother affected, but no syndrome was recognised in them. Excluding this last case, no non-syndromic proband had an affected parent. The 58 probands with predominantly sagittal synostosis had 106 sibs, none of whom was affected. The 21 probands with predominantly coronal synostosis included one sib pair both affected; the remaining 17 sibs were unaffected. The four probands with predominantly metopic stenosis had 13 unaffected sibs and the four with multiple sutures involved had eight unaffected sibs. One sagittal proband had an unaffected monozygotic twin and another an unaffected dizygotic twin.
Full text
PDF





Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Aase J. M., Smith D. W. Facial asymmetry and abnormalities of palms and ears: a dominantly inherited developmental syndrome. J Pediatr. 1970 Jun;76(6):928–930. doi: 10.1016/s0022-3476(70)80378-x. [DOI] [PubMed] [Google Scholar]
- Baraitser M., Bowen-Bravery M., Saldaña-Garcia P. Pitfalls of genetic counselling in Pfeiffer's syndrome. J Med Genet. 1980 Aug;17(4):250–256. doi: 10.1136/jmg.17.4.250. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bartsocas C. S., Weber A. L., Crawford J. D. Acrocephalosyndactyly type 3: Chotzen's syndrome. J Pediatr. 1970 Aug;77(2):267–272. doi: 10.1016/s0022-3476(70)80334-1. [DOI] [PubMed] [Google Scholar]
- Cohen M. M., Jr Genetic perspectives on craniosynostosis and syndromes with craniosynostosis. J Neurosurg. 1977 Dec;47(6):886–898. doi: 10.3171/jns.1977.47.6.0886. [DOI] [PubMed] [Google Scholar]
- Hunter A. G., Rudd N. L. Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s). Teratology. 1976 Oct;14(2):185–193. doi: 10.1002/tera.1420140209. [DOI] [PubMed] [Google Scholar]
- Hunter A. G., Rudd N. L. Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly. Teratology. 1977 Jun;15(3):301–309. doi: 10.1002/tera.1420150312. [DOI] [PubMed] [Google Scholar]
- Kopyś Z., Stańska M., Ryzko J., Kulczyk B. The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. Hum Genet. 1980;56(2):195–204. doi: 10.1007/BF00295694. [DOI] [PubMed] [Google Scholar]
- NOACK M. [A contribution to the clinical picture of acrocephalosyndactylia (Apert's syndrome)]. Arch Kinderheilkd. 1959;160:168–171. [PubMed] [Google Scholar]
- Naveh Y., Friedman A. Pfeiffer syndrome: report of a family and review of the literature. J Med Genet. 1976 Aug;13(4):277–280. doi: 10.1136/jmg.13.4.277. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Pruzansky S., Pashayan H., Kreiborg S., Miller M. Roentgencephalometric studies of the premature craniofacial synostoses: report of a family with the Saethre-Chotzen syndrome. Birth Defects Orig Artic Ser. 1975;11(2):226–237. [PubMed] [Google Scholar]
- Robinow M., Sorauf T. J. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects Orig Artic Ser. 1975;11(5):99–106. [PubMed] [Google Scholar]
- Young I. D., Harper P. S. An unusual form of familial acrocephalosyndactyly. J Med Genet. 1982 Aug;19(4):286–288. doi: 10.1136/jmg.19.4.286. [DOI] [PMC free article] [PubMed] [Google Scholar]