[Prenatal sonographic diagnosis of a case of Desbuquois familial osseous dysplasia].
A rare form of osteodysplasia could be diagnosed by prenatal sonographic screening. Characteristic for this rare type of dysplasia, described only in 8 cases by Desbuqois and Piussan so far, is a severe dwarfism, generalized muscle hypotonia, mental retardation, asynchronized ossification, osteoporosis and considerable desaxiations of tubular bones and articulations. Radiologically, polydactylia and especially an increase in size of the trochanter minor can be observed. In the case described, this autosomal recessive hereditary disease had already been diagnosed for the first child of this consanguineous couple, which had died at 7 weeks after birth. During the second pregnancy of this patient the malformation could be diagnosed by ultrasound in the 24th week of gestation and the pregnancy was terminated. Autopsy and fetogram showed the malformations typical for this rare dysplasia.
Grischke
E M
EM
Univ.-Frauenklinik Heidelberg.
Tröger
J
J
Schroeder-Kurth
T
T
Schmidt
W
W
D001842:Bone and Bones / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014463:Ultrasonography
Pränatale sonographische Diagnose eines Falles von familiärer ossärer Dysplasie Desbuquois.