Craniofrontonasal dysplasia associated with Chiari malformation

Report of 3 cases

Restricted access

Craniofrontonasal dysplasia (CFND) is a rare developmental anomaly associated with an X-linked inheritance. It is predominantly expressed in females. A Chiari malformation (CM) has not been reported in such patients earlier. The authors report on a family with 3 female members who have marked and generalized CFND. The generalized bone dysplasia/hypertrophy resulted in reduction in the posterior cranial fossa volume in all 3 patients, and in a CM associated with syringomyelia in 2 of them. One of the 2 affected family members who had a CM and syringomyelia was symptomatic and was treated by foramen magnum decompression surgery. The 3 family members had remarkable similarity in their external facial features and in their radiologically revealed morphological features. A review of the relevant literature, genetic abnormalities, and pattern of inheritance is presented.

Abbreviations used in this paper: CFND = craniofrontonasal dysplasia; CFNS = craniofrontonasal syndrome; CM-I = Chiari malformation Type I.
Article Information

Contributor Notes

Address correspondence to: Atul Goel, M.Ch., Department of Neurosurgery, King Edward VII Memorial Hospital, Parel, Mumbai, 400012, India. email: atulgoel62@hotmail.com.
Headings
References
  • 1

    Beighton P: Craniometaphyseal dysplasia (CMD), autosomal dominant form. J Med Genet 32:3703741995

  • 2

    Brueton LAWinter RM: Craniodiaphyseal dysplasia. J Med Genet 27:7017061990

  • 3

    Cavender RKSchmidt JH III: Tonsillar ectopia and Chiari malformations: monozygotic triplets. Case report. J Neurosurg 82:4975001995

    • Search Google Scholar
    • Export Citation
  • 4

    Cohen MM Jr: Craniofrontonasal dysplasia. Birth Defects Orig Artic Ser 15:5B85891979

  • 5

    Coria FQuintana FRebollo MCombarros OBerciano J: Occipital dysplasia and Chiari type I deformity in a family. Clinical and radiological study of three generations. J Neurol Sci 62:1471581983

    • Search Google Scholar
    • Export Citation
  • 6

    Goel ABhatjiwale MDesai K: Basilar invagination: a study based on 190 surgically treated patients. J Neurosurg 88:9629681998

  • 7

    Louryan S: [Role of the neural crest in maxillofacial malformations: facts and hypotheses.]. Rev Med Brux 10:3413481989. (Fr)

  • 8

    McGaughran JRees MBattin M: Craniofrontonasal syndrome and diaphragmatic hernia. Am J Med Genet 110:3913922002. (Letter)

  • 9

    McKenzie J: The first arch syndrome. Arch Dis Child 33:4774861958

  • 10

    Reich EWWishnick MMMcCarthy JGRisch N: Craniofrontal dysplasia: clinical delineation. Am J Hum Genet 37:A721985. (Abstract)

  • 11

    Saavedra DRichieri-Costa AGuion-Almeida MLCohen MM Jr: Craniofrontonasal syndrome: study of 41 patients. Am J Med Genet 61:1471511996

    • Search Google Scholar
    • Export Citation
  • 12

    Sax CMFlannery DB: Craniofrontonasal dysplasia: clinical and genetic analysis. Clin Genet 29:5085151986

  • 13

    Slover RSujansky E: Frontonasal dysplasia with coronal craniosynostosis in three sibs. Birth Defects Orig Artic Ser 15:5B75831979

    • Search Google Scholar
    • Export Citation
  • 14

    Speer MCEnterline DSMehltretter LHammock PJoseph JDickerson M: Chiari type 1 malformation with or without syringomyelia: prevalence and genetics. J Genet Couns 12:2973112003

    • Search Google Scholar
    • Export Citation
  • 15

    Stovner LJCappelen JNilsen GSjaastad O: The Chiari type I malformation in two monozygotic twins and first-degree relatives. Ann Neurol 31:2202221992

    • Search Google Scholar
    • Export Citation
  • 16

    Twigg SRFKan RBabbs CBochukova EGRobertson SPWall SA: Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Proc Natl Acad Sci U S A 101:865286572004

    • Search Google Scholar
    • Export Citation
  • 17

    Twigg SRFMatsumoto KKidd AMJGoriely ATaylor IBFisher RB: The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet 78:99910102006

    • Search Google Scholar
    • Export Citation
  • 18

    Wieland IJakubiczka SMuschke PWolf AGerlach LKrawczak M: Mapping of a further locus for X-linked craniofrontonasal syndrome. Cytogenet Genome Res 99:2852882002

    • Search Google Scholar
    • Export Citation
  • 19

    Young ID: Craniofrontonasal dysplasia. J Med Genet 24:1931961987

TrendMD
Metrics

Metrics

All Time Past Year Past 30 Days
Abstract Views 254 159 16
Full Text Views 93 14 1
PDF Downloads 185 9 0
EPUB Downloads 0 0 0
PubMed
Google Scholar