Tags

Type your tag names separated by a space and hit enter

Two siblings with an unusual nasal malformation: further instances of craniorhiny?
Am J Med Genet A 2007; 143A(24):3290-4AJ

Abstract

We report a brother and sister born to consanguineous parents. The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum. One sibling also has a midline cleft lip and the other has narrowing of the posterior choanae. We suggest that they have craniorhiny, despite the absence of an abnormal skull shape. The differential diagnosis is discussed.

Links

  • Publisher Full Text
    • Aggregator Full Text

    Authors+Show Affiliations

    Lees MM
    Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK. mlees@ich.ucl.ac.uk
    Kangesu L
    No affiliation info available
    Hall P
    No affiliation info available
    Hennekam RC
    No affiliation info available

    MeSH

    ChildChild, PreschoolCleft LipCongenital AbnormalitiesCraniosynostosesDiagnosis, DifferentialFaciesFamily HealthFemaleGenes, RecessiveHumansHypertelorismMaleNoseSiblings

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    17963218

    Citation

    Lees, Melissa M., et al. "Two Siblings With an Unusual Nasal Malformation: Further Instances of Craniorhiny?" American Journal of Medical Genetics. Part A, vol. 143A, no. 24, 2007, pp. 3290-4.
    Lees MM, Kangesu L, Hall P, et al. Two siblings with an unusual nasal malformation: further instances of craniorhiny? Am J Med Genet A. 2007;143A(24):3290-4.
    Lees, M. M., Kangesu, L., Hall, P., & Hennekam, R. C. (2007). Two siblings with an unusual nasal malformation: further instances of craniorhiny? American Journal of Medical Genetics. Part A, 143A(24), pp. 3290-4.
    Lees MM, et al. Two Siblings With an Unusual Nasal Malformation: Further Instances of Craniorhiny. Am J Med Genet A. 2007 Dec 15;143A(24):3290-4. PubMed PMID: 17963218.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Two siblings with an unusual nasal malformation: further instances of craniorhiny? AU - Lees,Melissa M, AU - Kangesu,Loshan, AU - Hall,Per, AU - Hennekam,Raoul C M, PY - 2007/10/30/pubmed PY - 2008/1/3/medline PY - 2007/10/30/entrez SP - 3290 EP - 4 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 143A IS - 24 N2 - We report a brother and sister born to consanguineous parents. The siblings have hypertelorism, bifid nose, upturned nares, histologically proven intranasal dermoid, and soft-tissue swellings of the philtrum. One sibling also has a midline cleft lip and the other has narrowing of the posterior choanae. We suggest that they have craniorhiny, despite the absence of an abnormal skull shape. The differential diagnosis is discussed. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/17963218/Two_siblings_with_an_unusual_nasal_malformation:_further_instances_of_craniorhiny L2 - https://doi.org/10.1002/ajmg.a.32026 DB - PRIME DP - Unbound Medicine ER -