ABSTRACT
Five cases of dysplasia of the jaws in one family which has been under our observation since 1970 are reported. The disease appeared as a mixed display of jaw lesions, in some members as fibrous dysplasia and in others as cherubism. We were able to trace the disorder through an unbroken line of four generations, and thus to demonstrate autosomal dominant inheritance. Cytogenetic analysis performed on three members of this family revealed a significantly increased rate of chromosomal breakage.
Subject(s)
Cherubism/genetics , Fibrous Dysplasia of Bone/genetics , Fibrous Dysplasia, Polyostotic/genetics , Mandibular Diseases/genetics , Adult , Child , Child, Preschool , Chromosome Aberrations , Female , Follow-Up Studies , Humans , Male , PedigreeABSTRACT
The routine in our department for years used to be: prevention of bearing down during the end of the 2nd stage of labor in high myopic parturients, by forceps delivery, with the assumption that this will prevent increased intraocular pressure--thus preventing deterioration or increased damage to the eyes. The goal of this study was to challenge our theory and thus we decided to re-evaluate this approach. Various obstetrical data were recorded in 50 women with myopia from 4.5 to 15.0 diopters who were admitted in labor to our department. Fundus examination was performed in all of them before and after delivery. Various types of retinal degeneration and retinal breaks were observed in most of them at their arrival but no deterioration of these retinal defects was observed in any of the cases at the later examination. In view of our results, it is recommended to let high myopic patients deliver spontaneously.
Subject(s)
Delivery, Obstetric , Myopia , Obstetric Labor Complications , Animals , Cricetinae , Female , Humans , PregnancyABSTRACT
Twelve cases of fetal malformation due to the amniotic band syndrome (ABS) or disruption sequence were reviewed; these included craniofacial malformations, limb defects and gastroschisis. No one case was similar to another. The initial diagnosis was correct in 5 of the 12 cases, mainly those involving limb defects. All 4 cases in which major malformations were present were initially diagnosed incorrectly. The importance of correct diagnosis mainly concerns counselling regarding the future risk of recurrence--the probability of familial recurrence of ABS is very low, whereas the risk of recurrence of a familial neural tube defect is about 5%.