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

Lisa J. Cushman, Wilfredo Torres-Martinez, David Weaver

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)638-641
Number of pages4
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume73
Issue number9
DOIs
StatePublished - Sep 2005

Fingerprint

Conductive Hearing Loss
Alopecia
Kallmann Syndrome
Facial Asymmetry
Branchial Region
Eyelids
Ear
Phenotype
Genes
Johnson neuroectodermal syndrome

Keywords

  • AADH syndrome
  • Alopecia
  • Autosomal dominant inheritance
  • Birth defects
  • Branchial arch
  • Johnson neuroectodermal syndrome
  • Johnson-Mcmillin syndrome

ASJC Scopus subject areas

  • Developmental Biology

Cite this

Johnson-McMillin syndrome : Report of a new case with novel features. / Cushman, Lisa J.; Torres-Martinez, Wilfredo; Weaver, David.

In: Birth Defects Research Part A - Clinical and Molecular Teratology, Vol. 73, No. 9, 09.2005, p. 638-641.

Research output: Contribution to journalArticle

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