Johnson-McMillin syndrome: report of a new case with novel features.

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.

• Authors: Lisa J Cushman, Wilfredo Torres-Martinez, David D Weaver
• Journal: Birth defects research. Part A, Clinical and molecular teratology (Birth Defects Res A Clin Mol Teratol) Vol. 73 Issue 9 Pg. 638-41 (Sep 2005) ISSN: 1542-0752 [Print] United States
• PMID: 16116593 (Publication Type: Case Reports, Journal Article)
• Copyright: Birth Defects Research (Part A), 2005. (c) 2005 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics, physiopathology)
• Alopecia (genetics)
• Child, Preschool
• Ear, External (abnormalities)
• Facial Asymmetry (genetics)
• Female
• Genes, Dominant
• Hearing Loss, Conductive (genetics, physiopathology)
• Humans
• Intellectual Disability (genetics)
• Neurocutaneous Syndromes (genetics, physiopathology)
• Syndrome