Melnick-Needles syndrome. Four new cases.
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.
Eggli
K
K
Department of Radiology, Pennsylvania State University, Milton S. Hershey Medical Center, Hershey.
Giudici
M
M
Ramer
J
J
Easterbrook
J
J
Madewell
J
J
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