Premium
Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: A new genetic syndrome?
Author(s) -
Levy J.,
Chung W.,
Garzon M.,
Gallagher M.P.,
Oberfield S.E.,
Lieber E.,
AnyaneYeboa K.
Publication year - 2002
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.10072
Subject(s) - microcephaly , failure to thrive , myopathy , diarrhea , medicine , pediatrics , endocrinology
Abstract We describe three siblings with congenital myopathy, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, deafness, and microcephaly. The parents are not consanguineous and there are no other affected relatives. This new syndrome, which follows an apparent autosomal recessive pattern, appears to be distinct from known syndromes of secretory diarrhea, myopathy, deafness, microcephaly, and zinc deficiency. © 2003 Wiley‐Liss, Inc.