title: X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.
abstract: We report on 2 patients with mental retardation and bullous dystrophy, macular type. The observation of the condition in a male and his maternal uncle is consistent with recessive X-linkage. Due to the rarity of the condition, nosologic definition was difficult before the birth of the propositus. The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date. The recent localization of the bullous dystrophy gene in the Xq24-qter segment opens the possibility of prenatal diagnosis.
authors.affiliation: Istituto di Pediatria, Universitá di Perugia, Italy.
authors.forename: M S
authors.initials: MS
authors.lastname: Lungarotti
authors.forename: C
authors.initials: C
authors.lastname: Martello
authors.forename: G
authors.initials: G
authors.lastname: Barboni
authors.forename: D
authors.initials: D
authors.lastname: Mezzetti
authors.forename: G
authors.initials: G
authors.lastname: Mariotti
authors.forename: A
authors.initials: A
authors.lastname: Calabro
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000505:Alopecia / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics; D005145:Face / Q000002:abnormalities; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*