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Johnson-McMillin syndrome: report of a new case with novel features.
Birth Defects Res A Clin Mol Teratol. 2005 Sep; 73(9):638-41.BD

Abstract

BACKGROUND

Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. It is inherited in an autosomal dominant manner; however, the causative gene has not yet been identified.

CASE

Herein we report a patient with this condition who exhibits many of the features previously described, including alopecia, malformed auricles, conductive hearing loss, facial asymmetry, and developmental delays. Interestingly, she also has features that have not yet been reported, such as preauricular pits and tags, broad depressions at the lateral aspects of the eyes, and an abnormal left lower eyelid.

CONCLUSIONS

In addition to demonstrating a pattern of anomalies consistent with JMS, this patient has several unique features. This phenotype supports the involvement of the branchial arches in the embryologic basis of this condition.

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Publisher Full Text

Authors+Show Affiliations

Cushman LJ
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Torres-Martinez W
No affiliation info available
Weaver DD
No affiliation info available

MeSH

Abnormalities, MultipleAlopeciaChild, PreschoolEar, ExternalFacial AsymmetryFemaleGenes, DominantHearing Loss, ConductiveHumansIntellectual DisabilityNeurocutaneous SyndromesSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16116593

Citation

Cushman, Lisa J., et al. "Johnson-McMillin Syndrome: Report of a New Case With Novel Features." Birth Defects Research. Part A, Clinical and Molecular Teratology, vol. 73, no. 9, 2005, pp. 638-41.
Cushman LJ, Torres-Martinez W, Weaver DD. Johnson-McMillin syndrome: report of a new case with novel features. Birth Defects Res A Clin Mol Teratol. 2005;73(9):638-41.
Cushman, L. J., Torres-Martinez, W., & Weaver, D. D. (2005). Johnson-McMillin syndrome: report of a new case with novel features. Birth Defects Research. Part A, Clinical and Molecular Teratology, 73(9), 638-41.
Cushman LJ, Torres-Martinez W, Weaver DD. Johnson-McMillin Syndrome: Report of a New Case With Novel Features. Birth Defects Res A Clin Mol Teratol. 2005;73(9):638-41. PubMed PMID: 16116593.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Johnson-McMillin syndrome: report of a new case with novel features. AU - Cushman,Lisa J, AU - Torres-Martinez,Wilfredo, AU - Weaver,David D, PY - 2005/8/24/pubmed PY - 2006/1/13/medline PY - 2005/8/24/entrez SP - 638 EP - 41 JF - Birth defects research. Part A, Clinical and molecular teratology JO - Birth Defects Res A Clin Mol Teratol VL - 73 IS - 9 N2 - BACKGROUND: Johnson-McMillin syndrome (JMS) is a rare neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. It is inherited in an autosomal dominant manner; however, the causative gene has not yet been identified. CASE: Herein we report a patient with this condition who exhibits many of the features previously described, including alopecia, malformed auricles, conductive hearing loss, facial asymmetry, and developmental delays. Interestingly, she also has features that have not yet been reported, such as preauricular pits and tags, broad depressions at the lateral aspects of the eyes, and an abnormal left lower eyelid. CONCLUSIONS: In addition to demonstrating a pattern of anomalies consistent with JMS, this patient has several unique features. This phenotype supports the involvement of the branchial arches in the embryologic basis of this condition. SN - 1542-0752 UR - https://www.unboundmedicine.com/medline/citation/16116593/Johnson_McMillin_syndrome:_report_of_a_new_case_with_novel_features_ L2 - https://doi.org/10.1002/bdra.20178 DB - PRIME DP - Unbound Medicine ER -