[Melnick-Needles syndrome. Report of a case].
Melnick-Needles osteodisplasty is a X-linked dominant syndrome characterized by generalized bone dysplasia and abnormal facies. The Authors report on a 13 year old girl affected by severe valgus. At clinical examination the patient showed exophthalmos, full cheeks and micrognathia. Radiological examination revealed sclerosis of the skull base and mastoids, bowed radius and ulna (S-shaped), coxa valga and abnormal vertebral.
Divisione di Neurologia Pediatrica, Università degli Studi di Catania, Italia.
F
F
Greco
L
L
Mauceri
M
M
Finocchiaro
A
A
Fiumara
G
G
Sorge
D000293:Adolescent; D019066:Facies; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D011884:Radius / Q000002:abnormalities / Q000000981:diagnostic imaging; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging; D014457:Ulna / Q000002:abnormalities / Q000000981:diagnostic imaging; D014960:X Chromosome