Clinical and radiological aspects in Melnick-Needles syndrome.
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.
Albano
L M
LM
Infectious Diseases Pathology Laboratory, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo.
Kim
C A
CA
Lee
V K
VK
Sugayama
S M
SM
Barba
M F
MF
Utagawa
C Y
CY
Bertola
D
D
Gonzalez
C H
CH
D000293:Adolescent; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography