[Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease].
Two unrelated patients with Hirschsprung disease and very short stature since birth are reported. Attention is drawn to the early roentgenographic signs of recessive McKusick metaphyseal chondrodysplasia syndrome or cartilage-hair hypoplasia syndrome. Some, but not all, patients with this chondrodysplasia exhibit anomalies of the hair, neutropenia and immune deficiency. Presence of congenital megacolon is apparently not exceptional. Nosologic limits are discussed.
le Merrer
M
M
Unité INSERM U12, Hôpital des Enfants-Malades, Paris.
Briard
M L
ML
Chauvet
M L
ML
Maroteaux
P
P
D004687:Enchondromatosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities; D006627:Hirschsprung Disease / Q000150:complications* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male