Presentation
Mandibulofacial dysostosis with microcephaly: a case presenting with seizures. Brain Dev. 2017;39:177–81. [PubMed: 27670155] McDermott JH, Study DDD, Clayton-Smith J. Sibling recurrence of total anomalous pulmonary venous drainage. [ncbi.nlm.nih.gov]
Entire Body System
- Dysostosis
Nager acrofacial dysostosis. Syndrome of the month. J Med Genet 1993;30:779-782. [medigraphic.com]
Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. Am J Med Genet A. 2013;161A:108–13. [ncbi.nlm.nih.gov]
Cranio-Facial Dysostosis of Crouzon. Pediatrics. 1950 Jan 1;5(1):90–6. Kumar DS, Murugesan D, Murugan K, Subramanian D, Maheshwari SU. Crouzon Syndrome: Report in a Family. J Clin Diagn Res JCDR. 2016 Jan;10(1):ZJ02–3. [editorial.ucsg.edu.ec]
- Short Stature
Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. [rarediseases.info.nih.gov]