We describe a case of semi-lethal chondrodysplasia with skeletal manifestations, detectable at birth, typical of the round femoral inferior epiphysis dysplasia (RFIED) or 'Glasgow' variant. Immunological abnormalities and Hirschsprung disease, so far described only in cartilage hair hypoplasia (CHH), were documented during the first months of life in our patient. These findings confirm the hypothesis that RFIED is a form of CHH with early infantile onset.
Immunological disorder and Hirschsprung disease in round femoral inferior epiphysis dysplasia / Lecora, M; Parenti, Giancarlo; Iaccarino, E; Scarano, G; Cucchiara, S; Andria, Generoso. - In: CLINICAL DYSMORPHOLOGY. - ISSN 0962-8827. - STAMPA. - 4:2(1995), pp. 130-135.
Immunological disorder and Hirschsprung disease in round femoral inferior epiphysis dysplasia.
PARENTI, GIANCARLO;ANDRIA, GENEROSO
1995
Abstract
We describe a case of semi-lethal chondrodysplasia with skeletal manifestations, detectable at birth, typical of the round femoral inferior epiphysis dysplasia (RFIED) or 'Glasgow' variant. Immunological abnormalities and Hirschsprung disease, so far described only in cartilage hair hypoplasia (CHH), were documented during the first months of life in our patient. These findings confirm the hypothesis that RFIED is a form of CHH with early infantile onset.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
