title: Moore-Federman syndrome and acromicric dysplasia: are they the same entity?
abstract: Four unrelated patients are reported with short stature, stiffness of the joints, short fingers, inability to make a fist, and thickened skin on the forearms. Investigations have failed to show a lysosomal storage disorder and radiographs show non-specific changes with a delayed carpal bone age. The clinical features in the four children are very similar to the recently described acromicric dysplasia. There are also similarities to Moore-Federman syndrome which has only been described in one family. The case is made that acromicric dysplasia and Moore-Federman syndrome are the same entity.
authors.affiliation: Kennedy Galton Centre, Northwick Park Hospital, London.
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: M A
authors.initials: MA
authors.lastname: Patton
authors.forename: J
authors.initials: J
authors.lastname: Challener
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000175:diagnosis*; D006801:Humans; D006956:Hyperopia / Q000175:diagnosis*; D008297:Male; D013577:Syndrome