Three siblings with SBD from consangineous parents are reported. The prenatal diagnosis of a short-limbed form of dwarfism was made by ultrasonography and the final diagnosis in the index case by radiography, demonstrating a short-limbed, platyspondylic dwarf with a snail-like configuration of the ilium and vertebral bodies, flat on AP and round on lateral view. The histological examination showed a generalized, severe disturbance of cartilage formation with marked hypercellularity of proliferating and resting zones, reduction of intercellular matrix, and shortening of the irregular columns of proliferating cartilage. The ultramicroscopic findings were nonspecific. This is the first report of SBD after the original description, bringing the total to 14 cases in 5 families. The correct radiological diagnosis and the differential diagnosis, in particular thanatophoric dysplasia, are essential for genetic counselling and obstetrical guidance of families affected with this autosomal recessive dysplasia.
The authors studied by light microscopy the vessels of the femoral head and neck in 38 well preserved specimens from core biopsy. There were 17 cases of osteonecrosis (ON), 11 cases of osteoarthrosis (OA) and 10 cases of reflex sympathetic dystrophy, so called algodystrophy (AD). Mean age of the patients was respectively 44, 45 and 42 years. The sex ratio, M/F, was respectively 12/5, 6/5 and 9/1. Types of staining used were hematoxylin-eosin, Masson Trichrome, P.A.S. and Verhoeff. In counting, thick-walled and thin-walled vessels were distinguished. There was a significant reduction in the number of the thick- and thin-walled vessels, in the ON group, by comparison with the OA and AD groups. An increased number of thin-walled vessels in the AD group were also observed. Morphological study showed an abnormal frequency of fibrosis of the media in the arteries of the ON group, i.e. arteriosclerosis. These data were compared with the few other histopathological studies previously published. The authors recommend further studies in order to precise their frequency and their significance.
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