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.

Bibliographic Details

Main Authors:	Albano,Lilian M. J., Chong,A. Kim, Lee,Vivian K., Sugayama,Sofia M. M., Barba,Mário F., Utagawa,Cláudia Y., Bertola,Débora, Gonzalez,Claudette H.
Format:	Digital revista
Language:	English
Published:	Faculdade de Medicina / Universidade de São Paulo - FM/USP 1999
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0041-87811999000200007
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