title: Melnick-Needles syndrome. Four new cases.
abstract: Melnick-Needles syndrome is a rare connective tissue disorder producing somatic abnormalities with characteristic radiographic features. There are less than 35 documented cases reported to date. We present four new cases of Melnick-Needles Syndrome, one of which is the first reported Asian-ancestry patient. Two girls are daughters of one of Needle's original patients from family #2. Two others, from unrelated non-affected families, probably represent new mutations. All have characteristic radiographic features of the disorder.
authors.affiliation: Department of Radiology, Pennsylvania State University, Milton S. Hershey Medical Center, Hershey.
authors.forename: K
authors.initials: K
authors.lastname: Eggli
authors.forename: M
authors.initials: M
authors.lastname: Giudici
authors.forename: J
authors.initials: J
authors.lastname: Ramer
authors.forename: J
authors.initials: J
authors.lastname: Easterbrook
authors.forename: J
authors.initials: J
authors.lastname: Madewell
mesh_terms: D000293:Adolescent; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D011859:Radiography; D014517:Ureteral Obstruction / Q000150:complications; D014960:X Chromosome