Dyssegmental dysplasia

Abstract

Two cases of dyssegmental dysplasia, a rare lethal skeletal dysplasia in the newborn, are reported. Two different forms of dyssegmental dysplasia can be distinguished--the lethal Silverman type and the less severe Rolland-Desbuquois type. In this report, both cases are of the Silverman type. Histopathology of chondro-osseous tissue confirms the similarity in pathologic findings to Kniest dysplasia.

Antenatal ultrasonic diagnosis of dyssegmental dysplasia: A case report

“…Prenatal diagnosis of dyssegmental dysplasia has been reported by others (Anderson et al, 1988;Fasanelli et al, 1985;Kim et al, 1986;Stoess, 1985). Earlier in this decade Filley et al (1981) and Hobbins er al.…”

“…Currently only the severe form (Silverman-Handmaker) of dyssegmental dysplasia is reported to have been diagnosed antenatally (Anderson et al, 1988;Fasanelli er al., 1985). The hypothesis that there are two types of dyssegmental dysplasia can be proved or disproved with biochemical or histochemical markers (Fasanelli et al, 1985) or by a variety of other clinical and genetic means.…”

“…The heterogeneity of this form of micromelic dwarfism led previous investigators to propose two variants: the lethal Silverman type and the less severe Rolland-Desbuquois type (Aleck et al, 1987;Fasanelli et al, 1985;Gorlin and ],anger, 1978).…”

Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz–Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles

“…SJS can also be viewed as a mild form of DDSH, as osteochondral dysplasia is milder in SJS than in DDSH and generalized muscle tone, including facial abnormalities, such as blepharophimosis or pursed lips, is prominent. There is another clinical classification of dyssegmental dysplasia wherein dyssegmental dysplagia Rolland–Desbuquois type (DDRD) is considered a mild form of DDSH [ 6 ], and there is confusion between the clinical and molecular classifications of these diseases. Recently, a patient with DDRD was reported to have a mutation in HSPG2 [ 7 ], and the presence of myotonia was suggested; however, joint contracture made the evaluation of muscle symptoms difficult.…”