Results 151 to 160 of about 47,001 (202)

A Case of Farber Disease

Pediatrics International, 1992
We report a case of Farber disease (Farber lipogranulomatosis). The main features were a shrill voice, joint swelling, subcutaneous nodules and retarded psychomotor development. Cytological investigation revealed intracytoplasmic inclusion bodies characteristic of Farber disease.
K Furusho, Ei-Ichi Kinoshita, Mayumi Koga   +2 more
exaly   +3 more sources

Farber Disease in a Newborn

Pediatric Dermatology, 2009
Abstract:  Farber disease is a rare lysosomal storage disease characterized by a clinical triad including painful joint deformity, subcutaneous nodules and hoarseness, due to progressive granulomatous inflammation. We report the case of an early presentation on a female infant who manifested typical signs 1 week after birth.
Chaouki, Sana, Elarqam, Larbi, Atmani, Samir, Bouharrou, Abdelhak, Hida, Mustapha   +4 more
openaire   +2 more sources

Farber's disease

The Journal of Pediatrics, 1962
The 4 previously reported examples of Farber's disease present a unique and consistent clinical pattern with the onset of periarticular swelling and a weak, hoarse cry occurring in the early months of life. Systemic involvement with motor and mental retardation follow rapidly, and death occurs before 2 years of age.
S.K. Abul-Haj, Douglas G. Martz, William F. Douglas, Leo J. Geppert   +3 more
openaire   +1 more source

Farber's Disease: A Fine Structural Study

Ultrastructural Pathology, 1987
A 1-week-old baby boy presented with hepatosplenomegaly, coarse facial features, and cloudy corneas. A metabolic storage disease was considered and he underwent cutaneous and liver biopsy. By light microscopy the skin was normal. Kupffer cells were enlarged and had foamy cytoplasm.
Richard K Sibley, R K Sibley
exaly   +3 more sources

CHEMICAL STUDIES OF FARBER'S DISEASE

Acta Neurologica Scandinavica, 1970
The lipid composition of autopsy specimens from a patient suffering from Farber's disease (clinically verified) has been characterized and correlated to those of normal adult, infant, and foetal specimens. In autopsy specimens from the brain and liver tissue of the patient in question, an increased amount of an unknown glycolipid fraction and a ...
J, Clausen, S, Rampini
openaire   +2 more sources

PRENATAL DIAGNOSIS OF FARBER'S DISEASE

The Lancet, 1979
Two pregnancies at risk for Farber's disease were monitored with amiocentesis at 15 and 16 weeks' gestation. In the first pregnancy tested, cultured amniotic-cell ceramidase activity was 7.8% of the control mean and an affected fetus was predicted. The pregnancy was terminated at 22 weeks' gestation and the diagnosis was confirmed by the demonstration ...
A H, Fensom, P F, Benson, B R, Neville, H W, Moser, A E, Moser, J T, Dulaney   +5 more
openaire   +2 more sources

Farber disease in a patient from China

American Journal of Medical Genetics Part A, 2020
AbstractFarber disease (FD) is a rare lysosomal storage disorder caused by mutation of the ASAH1 gene. Classic symptoms of FD include subcutaneous nodules, joint pain and hoarseness. Most patients die during childhood. Here we report a 25‐year‐old female FD patient with rare osteolytic changes of bilateral hands and toes.
Xudong Bao, Mingsheng Ma, Zhenjie Zhang, Yiwen Xu, Zhengqing Qiu   +4 more
openaire   +2 more sources

Familial Lipogranulomatosis (Farber's disease)

Clinical Genetics, 1976
Farber's disease (generalized lipogranulomatosis) is described in three affected siblings, products of a consanguineous marriage between first cousins. The clinical, laboratory, pathological and histochemical findings in one of these cases are reported in detail. This is the first recorded observation of Farber's disease in Iran.
G H, Amirhakimi, P, Haghighi, M A, Ghalambor, S, Honari   +3 more
openaire   +2 more sources