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 Dec 15; 143A(24):3290-4.AJ

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), 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 -