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. Birth Defects Research (Part A), 2005. (c) 2005 Wiley-Liss, Inc.
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. Birth Defects Research (Part A), 2005. (c) 2005 Wiley-Liss, Inc.
Authors: Christopher T Gordon; K Nicole Weaver; Roseli Maria Zechi-Ceide; Erik C Madsen; Andre L P Tavares; Myriam Oufadem; Yukiko Kurihara; Igor Adameyko; Arnaud Picard; Sylvain Breton; Sébastien Pierrot; Martin Biosse-Duplan; Norine Voisin; Cécile Masson; Christine Bole-Feysot; Patrick Nitschké; Marie-Ange Delrue; Didier Lacombe; Maria Leine Guion-Almeida; Priscila Padilha Moura; Daniela Gamba Garib; Arnold Munnich; Patrik Ernfors; Robert B Hufnagel; Robert J Hopkin; Hiroki Kurihara; Howard M Saal; David D Weaver; Nicholas Katsanis; Stanislas Lyonnet; Christelle Golzio; David E Clouthier; Jeanne Amiel Journal: Am J Hum Genet Date: 2015-03-12 Impact factor: 11.025
Authors: Nagwa Abdel-Meguid; Ola Hosny Gebril; Ehab Ragaa Abdelraouf; Mohammed Akmal Shafie; Mohammed Bahgat Journal: J Family Med Prim Care Date: 2014-07
Authors: Sibylle Sabrautzki; Michael A Sandholzer; Bettina Lorenz-Depiereux; Robert Brommage; Gerhard Przemeck; Ingrid L Vargas Panesso; Alexandra Vernaleken; Lillian Garrett; Katharina Baron; Ali O Yildirim; Jan Rozman; Birgit Rathkolb; Christine Gau; Wolfgang Hans; Sabine M Hoelter; Susan Marschall; Claudia Stoeger; Lore Becker; Helmut Fuchs; Valerie Gailus-Durner; Martin Klingenspor; Thomas Klopstock; Christoph Lengger; Leuchtenberger Stefanie; Eckhard Wolf; Tim M Strom; Wolfgang Wurst; Martin Hrabě de Angelis Journal: Mamm Genome Date: 2016-09-26 Impact factor: 2.957