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Case #10207 - Association Tetralogy of Fallot, corpus callosum agenesis, cleft palate, vertebral malformations

Synopsis

- Tetralogy of Fallot
- corpus callosum agenesis
- cleft palate
- vertebral malformations

Differential diagnosis

- frontonasal dysplasia (MIM.136760)
- 22q11.2-associated syndromes: velocardiofacial syndrome (MIM.192430) abd DiGeorge syndrome (MIM.188400)
- hypertelorism with esophageal anomaly and hypospadias (MIM.145410)
- hemifacial macrosomy (MIM.164210)
- Coffin-Iris syndrome (MIM.135900)
- acrofacial dysostosis type 1, Nager type (AFD1) (MIM.154400)
- thrombocytopenia-radial agenesis syndrome (MIM.274000)
- C syndrome (MIM.211750)

See also

- malformative associations