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Cited by 35Craniofacial Disorders and Treatmentsdental development and anomaliesPectus Deformity Diagnosis and Treatment

A family study of craniosynostosis, with probable recognition of a distinct syndrome.

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Carter, C O, Till, K, Fraser, V, Coffey, R·1982·Journal of Medical Genetics
DOI 10.1136/jmg.19.4.280PMC PMC1048894
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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.

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  • For families without a molecular or cytogenetic diagnosis and with a negative family history, sibling recurrence risk is estimated at 2% for sagittal/metopic synostosis, 5% for unicoronal synostosis, and 10% for bicoronal/multisuture synostosis.

    “Where no molecular or cytogenetic diagnosis is made and the family history is negative, we suggest a sibling recurrence risk of 2% for sagittal and metopic synostosis, 5% for unicoronal synostosis and 10% for bicoronal and multisuture synostosis.”

    From Craniosynostosis (2011) · cites this paper as [42]

    The Discussion estimates about 5% sibling recurrence for coronal synostosis when neither parent is affected, but does not give a separate estimate for unicoronal cases. It estimates about 1%, not 2%, for sagittal synostosis. The case descriptions report unaffected siblings for metopic and multisuture cases but give neither the claimed 2% metopic estimate nor a 10% bicoronal/multisuture estimate. (LLM, conf=0.89)

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Research works printed but not linked: 3

  1. Smith D. Recognisable patterns of human malformations. 2nd ed. Philadelphia: Saunders, 1976.
  2. Vulliamy DG, Normandale PA. Craniofacial dysostosis in a Dorset family. Arch Dis Child 1966 ;41:375-82.
  3. Noack M. Ein Beitrag zum Krankheitbild der Akro- cephalosyndactylie (Apert). Arch Kinderheilkd 1959;160: 168-71.

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Authors
Carter, C. O., Till, K., Fraser, V, & Coffey, R.
Affiliations
Great Ormond Street Hospital (GB)
Venue
Journal of Medical Genetics
Publisher
BMJ
Published
1982-08
Volume
19
Issue
4
Pages
280-285
ISSN
  • 0022-2593 (ISSN-L)
  • 1468-6244
DOI
10.1136/jmg.19.4.280
PMC
PMC1048894
OpenAlex
W2085417978
Cited by
35
References
13
Citations by year
2015: 1 · 2014: 1 · 2013: 3
FWCI
1.47
Type
journal article
Language
en
Open access
Locations
  • Journal of Medical Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
  • Health Sciences › Medicine › Surgery › Pectus Deformity Diagnosis and Treatment
Keywords
craniosynostosis, familial recurrence, Crouzon syndrome, Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome, coronal synostosis, sagittal synostosis, monozygotic twins, dizygotic twins, heritability
MeSH terms
Craniosynostoses, Female, Genes, Dominant, Humans, Infant, Male, Sex Factors, Skull, Syndrome

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