title: Late-onset localized junctional epidermolysis bullosa and mental retardation: a distinct autosomal recessive syndrome.
abstract: We present 2 sibs with a local junctional type of epidermolysis bullosa associated with enamel defect of the teeth, dystrophic nails of the feet, and mental retardation. Subluxation of the lenses was evident in 1 of them. This combination found in a brother and a sister seems to represent a distinct autosomal recessive type of epidermolysis bullosa.
authors.affiliation: Department of Family Medicine, Beilinson Medical Center, Petah Tiqva, Israel.
authors.forename: S
authors.initials: S
authors.lastname: Nakar
authors.forename: A
authors.initials: A
authors.lastname: Ingber
authors.forename: I
authors.initials: I
authors.lastname: Kremer
authors.forename: E
authors.initials: E
authors.lastname: Hodak
authors.forename: B Z
authors.initials: BZ
authors.lastname: Garty
authors.forename: E
authors.initials: E
authors.lastname: Ben-David
authors.forename: M
authors.initials: M
authors.lastname: David
authors.forename: M
authors.initials: M
authors.lastname: Shohat
mesh_terms: D000293:Adolescent; D000328:Adult; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007906:Lens Subluxation / Q000235:genetics; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics