title: Immunological disorder and Hirschsprung disease in round femoral inferior epiphysis dysplasia.
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.
authors.affiliation: Department of Pediatrics, Federico II University, Naples, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Lecora
authors.forename: G
authors.initials: G
authors.lastname: Parenti
authors.forename: E
authors.initials: E
authors.lastname: Iaccarino
authors.forename: G
authors.initials: G
authors.lastname: Scarano
authors.forename: S
authors.initials: S
authors.lastname: Cucchiara
authors.forename: G
authors.initials: G
authors.lastname: Andria
mesh_terms: D004838:Epiphyses; D005269:Femur; D006627:Hirschsprung Disease / Q000150:complications* / Q000276:immunology; D006801:Humans; D007154:Immune System Diseases / Q000150:complications*; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000276:immunology