title: Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome?
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.
authors.affiliation: Department of Pediatrics, Columbia University, New York, New York, USA.
authors.forename: J
authors.initials: J
authors.lastname: Levy
authors.forename: W
authors.initials: W
authors.lastname: Chung
authors.forename: M
authors.initials: M
authors.lastname: Garzon
authors.forename: M P
authors.initials: MP
authors.lastname: Gallagher
authors.forename: S E
authors.initials: SE
authors.lastname: Oberfield
authors.forename: E
authors.initials: E
authors.lastname: Lieber
authors.forename: K
authors.initials: K
authors.lastname: Anyane-Yeboa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D003638:Deafness / Q000473:pathology*; D003967:Diarrhea / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D009135:Muscular Diseases / Q000151:congenital / Q000473:pathology*; D010391:Pemphigoid, Bullous / Q000473:pathology*; D013577:Syndrome