title: Acromesomelic dwarfism: a new variation.
abstract: The rate skeletal disorder, acromesomelic dwarfism, is characterized by short stature and short limbs. Bone dysplasia is evident. We report two cases of a variation of this disorder in a Portuguese woman and her son. The clinical features of these two cases differ from those of cases previously reported in the literature.
authors.affiliation: Department of Genetics, HCL, Pediatrics Hospital of D Estefânia, Lisbon, Portugal.
authors.forename: F G
authors.initials: FG
authors.lastname: Ferraz
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: J P
authors.initials: JP
authors.lastname: Sousa
authors.forename: T
authors.initials: T
authors.lastname: Alves
authors.forename: I
authors.initials: I
authors.lastname: Dias
authors.forename: E
authors.initials: E
authors.lastname: Ferraz
authors.forename: M
authors.initials: M
authors.lastname: Marques
authors.forename: L
authors.initials: L
authors.lastname: Santos
mesh_terms: D000328:Adult; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005385:Fingers / Q000473:pathology; D005542:Forearm / Q000473:pathology; D006801:Humans; D010375:Pedigree; D011859:Radiography