[Multisynostotic osterodysgenesis and the problem of genetic counseling in newly-identified syndromes (author's transl)].
The authors report two female infants affected with a skeletal malformation syndrome, recently identified and probably genetic in nature, which includes as principal features a craniosynostosis with secondary midfacial hypoplasia and a characteristic facies. More specifically, the skeletal alterations include synostosis of the radius and humerus, congenital bowing of the femurs with fracturing during the neonatal period, and other minor anomalies of the thorax and extremities. The differential diagnosis includes serveral skeletal dysplasias such as the Campomelic syndrome, certain of the Acrocephalosyndactylies, and Osteodysgenesis Imperfecta. However, global comparison of the clinical and radiographic features permits their exclusion, allowing the consideration that we are dealing with a new syndrome, which has been named Multisynostotic Osteodysgenesis. The etiology of this disorder has not been elucidated, the two cases being isolated and without parental consanguinity. The authors, however, favor the theory of autosomal dominant inheritance. The difficulty of providing genetic counseling in the case of such poorly-understood syndromes is emphasized.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001848:Bone Diseases, Developmental / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013577:Syndrome
L'ostéodysgénésie multisynostotique et les problémes de conseil génétuque dans les syndromes nouvellement identifiés.