Most cases are sporadic. Instances of both autosomal dominant and autosomal recessive inheritances exist. Pathogenetic theories also include genetic translocation 2 . Faulty mesenchymal differentiation 3 with abnormally close ossification centers is evident embryologically. Choanal atresia, agenesis of the corpus callosum, hydrocephalus, congenital heart disease, and hypoplastic genitalia are frequently associated.
Further classification is described below in the discussion section.
There was no family history of congenital anomalies. During a limited prenatal ultrasound evaluation performed to corroborate an outside examination, multiple anomalies were detected, including craniofacial malformations and skeletal malformations. A coronal view of the face demonstrates the frontal bossing and the hypertelorism. Hypertelorism on the orbital view. Further, the profile of the fetus demonstrated frontal bossing, hypertelorism and micrognathia.