Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia.
AUTOR(ES)
Verloes, A
RESUMO
Among children with recessive metaphyseal dysplasia involving the knees and extremities, two types can be distinguished. In true cartilage-hair hypoplasia, as described by McKusick, many patients show clinical hair involvement and variable immunodeficiency. We present a series of six patients with the same radiological changes, but without apparent hypotrichosis. We suggest that they should be considered as having a variant form of cartilage-hair hypoplasia, with a clinically distinct phenotype, which could be as common as 'true' cartilage-hair hypoplasia among non-Amish populations. Microscopic examination of the hair may show reduction in the diameter of the hair shaft. This form of metaphyseal dysplasia may result from allelic heterogeneity.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1017260Documentos Relacionados
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