Autopsy findings in a stillborn female infant with the Osebold-Remondini syndrome.
The Osebold-Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies. This is an autosomal dominant condition. In the family described by Osebold et al [1985], a female infant with the Osebold-Remondini syndrome was still-born. Cause of fetal death could not be determined, and, at the moment, cannot be assumed to be a pleiotropic manifestation of this gene. The skeletal abnormalities in the infant are described and illustrated. Histologic structure of bone (proximal femur, vertebral bodies, iliac crest, and costal junctions) was studied by light and electronmicroscopy. Several histologic and ultrastructural abnormalities found suggest that the Osebold-Remondini syndrome may involve more generalized anomalies of bone development than the clinical picture might suggest.
D000015:Abnormalities, Multiple / Q000150:complications / Q000473:pathology*; D001344:Autopsy; D005260:Female; D005313:Fetal Death; D005532:Foot Deformities, Congenital; D006130:Growth Disorders / Q000150:complications / Q000473:pathology*; D006228:Hand Deformities, Congenital; D006801:Humans; D017880:Limb Deformities, Congenital; D011247:Pregnancy