RESUMO
ObjectiveTo evaluate the diagnostic capability of prenatal ultrasound in diagnosis of fetal akinesia deformation sequence (FADS).MethodsThe prenatal sonographic characteristics of 5 fetuses with FADS were analyzed retrospectively.ResultsBoth multiple joint contractures and central nervous system (CNS) anomalies,which include 5 small head circumferences,2 short cerebellar diameters,and 1 flat forehead,were found by prenatal ultrasound in all 5 FADS fetuses.Additional fetal abnormalities such as micrognathia,polyhydramnios,short umbilical cord and intrauterine growth retardation were also observed.The results of fetal chromosome analysis were available in 2 cases indicating normal karyotype.Conclusions Prenatal identification and diagnosis of FADS is possible based on the findings of sonographic examination.
RESUMO
Restrictive dermopathy is a rare autosomal recessive disorder in which rigidity or tautness of the skin from the second trimester causes a fetal akinesia deformation sequence (FADS) and early death. Characteristic features include taut skin with prominent subcutaneous vessels, widely open fontanelles and cranial sutures, distinctive facies, flexion contractures, pulmonary hypoplasia, sparse eyelashes and and eyebrows, thin dysplastic clavicles. The histologic abnormalities of the skin are located in a thin dermis, consisting of compactly arranged collagen fibers, scanty elastic fiber. The dermoepidermal junction is flat, and epidermal appendages are absent, miniaturized or immature. The presence of adipose tissue may be increased. We report on the first Korean case of restrictive dermopathy with typical clinical features and histological findings.