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 language | English |
|---|---|
| Pages (from-to) | 638-641 |
| Number of pages | 4 |
| Journal | Birth Defects Research Part A - Clinical and Molecular Teratology |
| Volume | 73 |
| Issue number | 9 |
| DOIs | |
| State | Published - Sep 2005 |
Fingerprint
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 journal › Article
}
TY - JOUR
T1 - Johnson-McMillin syndrome
T2 - Report of a new case with novel features
AU - Cushman, Lisa J.
AU - Torres-Martinez, Wilfredo
AU - Weaver, David
PY - 2005/9
Y1 - 2005/9
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.
AB - 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.
KW - AADH syndrome
KW - Alopecia
KW - Autosomal dominant inheritance
KW - Birth defects
KW - Branchial arch
KW - Johnson neuroectodermal syndrome
KW - Johnson-Mcmillin syndrome
UR - http://www.scopus.com/inward/record.url?scp=26444493603&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=26444493603&partnerID=8YFLogxK
U2 - 10.1002/bdra.20178
DO - 10.1002/bdra.20178
M3 - Article
C2 - 16116593
AN - SCOPUS:26444493603
VL - 73
SP - 638
EP - 641
JO - Teratology
JF - Teratology
SN - 1542-0752
IS - 9
ER -