Two sibs with fibrochondrogenesis.
Fibrochondrogenesis is one of the rare lethal osteochondrodysplasias, which show abnormal maturation, and disturbed growth of cartilage and bones. These disorders are a heterogenous group of genetic disorders with a total incidence of 1-3 in 10,000 births. Only 13 cases of fibrochondrogenesis have been published since Lazzaroni-Fossati et al. [1978] first described the disorder. We report on two sibs that occurred in a consanguineous couple and discuss the ultrasonographic, clinical, radiological, and pathological characteristics of this disorder. This occurrence confirms autosomal recessive inheritance of fibrochondrogenesis.
Leeners
Brigitte
B
Department of Obstetrics and Gynecology at the Rhenish-Westphalian Technical University Hospital Aachen, Germany. Brigitte.Leeners@usz.ch
Funk
Andreas
A
Cotarelo
Christina L
CL
Sauer
Itta
I
D003241:Consanguinity; D017809:Fatal Outcome; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D035781:Siblings; D014463:Ultrasonography