Spondyloepiphyseal dysplasia congenita.
We report a case of spondyloepiphyseal dysplasia congenita (SED congenita), diagnosed at autopsy of a term infant. Prenatal ultrasound at 20 weeks of gestation had shown shortening of all the fetal long bones, with bowing of the femora and humeri, clubfeet, and small thoracic cage. We discuss the diagnostic features of SED and the main differential diagnoses.
Turner
Leslie M
LM
Department of Pathology and Cell Biology, University of South Florida, Tampa, Florida, USA.
Steffensen
Thora S
TS
Leroy
Jules
J
Gilbert-Barness
Enid
E
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000473:pathology*; D011247:Pregnancy