Presentation
Musculoskeletal
- Fracture
Paterson, Fractures in early childhood: Osteogenesis imperfecta or child abuse ? J.Pediatr.Orthop. 11 (1991) 184–186. CrossRef PubMed CAS Google Scholar Edwards, M.J., R.J. Wenstrup, P.H. Byers and D.H. [link.springer.com]
Urogenital
- Cryptorchidism
Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007).Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2; 164745), abnormalities [rarediseases.info.nih.gov]
Epidemiology
Khoury et al., Genetic-epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity. Am. J. Med. Genet. 44 (1992) 668–675. CrossRef PubMed CAS Google Scholar Verloes, A., C. Elmer, D. [link.springer.com]