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


METHODS
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.
Cushman
Lisa J
LJ
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.
Torres-Martinez
Wilfredo
W
Weaver
David D
DD
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D000505:Alopecia / Q000235:genetics; D002675:Child, Preschool; D004431:Ear, External / Q000002:abnormalities; D005146:Facial Asymmetry / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006314:Hearing Loss, Conductive / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D020752:Neurocutaneous Syndromes / Q000235:genetics / Q000503:physiopathology*; D013577:Syndrome