title: Clinical and radiological aspects in Melnick-Needles syndrome.
abstract: Melnick-Needles syndrome is an X-linked dominant bone dysplasia, lethal in males, characterized by a typical facies and characteristic radiological findings: including sclerosis of skull base and mastoids. S-shaped appearance of tibia; cortical irregularities with a ribbon appearance of the ribs. About 48 well-documented cases have been reported, most of them were sporadic. Parental transmission has been published in only 11 kindreds. We are presenting the first Brazilian family with mother-daughter transmission. The proposita presented the typical clinical and radiological features with characteristic facies, severe thoracic cage restriction and pulmonary hypertension. Her mother was more mildly affected.
authors.affiliation: Infectious Diseases Pathology Laboratory, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo.
authors.forename: L M
authors.initials: LM
authors.lastname: Albano
authors.forename: C A
authors.initials: CA
authors.lastname: Kim
authors.forename: V K
authors.initials: VK
authors.lastname: Lee
authors.forename: S M
authors.initials: SM
authors.lastname: Sugayama
authors.forename: M F
authors.initials: MF
authors.lastname: Barba
authors.forename: C Y
authors.initials: CY
authors.lastname: Utagawa
authors.forename: D
authors.initials: D
authors.lastname: Bertola
authors.forename: C H
authors.initials: CH
authors.lastname: Gonzalez
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography