Omodysplasia: an affected mother and son.
Publication/Presentation Date
8-1-2002
Abstract
We describe a second family with mother to son transmission of omodysplasia, a rare skeletal dysplasia characterized by shortened humeri, shortened first metacarpals and craniofacial dysmorphism. The mother in this family had been diagnosed previously with Robinow syndrome; subsequently, her diagnosis was reclassified. Her pregnancy was closely monitored antenatally with serial ultrasound examinations. Delayed ossification of the humerus was noted prenatally. Her son had ambiguous genitalia and similar skeletal manifestations as his mother. A comparison to other known and suspected cases of dominant omodysplasia is presented. Our observations confirm the existence of a dominant variant of omodysplasia, document genital hypoplasia as an important feature of this syndrome in males and highlight the need to differentiate this entity from Robinow syndrome.
Volume
111
Issue
2
First Page
169
Last Page
177
ISSN
0148-7299
Published In/Presented At
Venditti, C. P., Farmer, J., Russell, K. L., Friedrich, C. A., Alter, C., Canning, D., Whitaker, L., Mennuti, M. T., Driscoll, D. A., & Zackai, E. H. (2002). Omodysplasia: an affected mother and son. American journal of medical genetics, 111(2), 169–177. https://doi.org/10.1002/ajmg.10555
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
12210345
Department(s)
Department of Pediatrics
Document Type
Article