Prenatal diagnosis of dyssegmental dwarfism

Abstract

Fetal ultrasound evaluations at 18 weeks gestation on two consecutive pregnancies of a woman who previously gave birth to a stillborn female affected with dyssegmental dwarfism, resulted in accurate diagnoses of unaffected and affected fetuses. Marked disorganization of vertebral bodies and associated encephalocele found in two affected cases in this family are consistent with the original observation of this new syndrome as two major aspects which differentiate it from other forms of lethal dwarfism.

Dyssegmental dysplasia, Silverman‐Handmaker type: prenatal ultrasound findings and molecular analysis

“…This case series demonstrates that anisospondyly is a finding that can be recognized on ultrasound by careful interrogation and by identification of the differing shapes of the vertebral bodies and the variable ossification of the axial spine. 13 Furthermore, even in the unossified spine (Case A2), spine abnormalities can be identified in the first trimester, thus confirming recurrence in pregnancies at risk. 11,14 Other conditions with vertebral anisospondyly include the DD-RD and metatropic 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.…”

“…Diagnosis of fetal skeletal dysplasias by means of ultrasound has bleen suggested by others (Filley et al, 1981;Hobbins et al, 1982;Anderson et al, 1'988;Fasonelli e t a / . , 1985;Kim et al, 1986;Stoess, 1985). Aleck et al (1987) and Stoess (1985) in a review of the literature described the clinical, radiographic, and morphologic evidence of the dyssegmental dysplasias.…”

Prenatal sonographic features of dyssegmental dysplasia Rolland‐Desbuquois type

“…Clearly, not all findings are amenable to prenatal sonographic diagnosis or occur in all affected offspring. DD cases with prenatal sonographic findings are presented in Table 1 3–11…”