DOI: 10.36347/sjmcr.2018.v06i02.004

Pages: 74-77

Oto-mandibular dysplasias are malformations involving hypoplasia or agenesis of the ear and mandibular hypoplasia. On the genetic level, it is a group of very diverse, sometimes hereditary, affections with different possible or sometimes isolated modes of transmission within a family. We report a case of Miller syndrome (Genée-Wiedemann syndrome) in a 12-year-old girl associated with perceptual deafness. The patient presented facial dysmorphism with bird head facies. There is also a hyperthelorism with effacement of the nasogeneic fold and an important micrognatie and mandibular retrognatia. At the otological examination, microtiters are present with low implanted and poorly hemmed ears without pretragian tubercles or preauricular fistulas. The acoustic external meatus is stenosed, which does not allow the eardrums to be visualized. The auditory balance shows a right endocochlear involvement with abolished PEA on the left. On the CT of temporal bone we notice a bilateral malformed aspect of the acicular chains with hypoplasia of the long processes of anvils and stirrups more marked in the left side. The genetic opinion is in favor of an oto-mandibular syndrome: Miller given the presence of malformations of the upper right extremity. Associated extrafacial malformations that are often present but unrecognized as well as the nature of the facial involvement and the symmetrical or asymmetrical character will allow to recognize certain specific genetic syndromes. Only the constitution of a family tree, a detailed clinical examination and sometimes some complementary examinations make it possible to identify these syndromic forms. The presence of abnormalities of the extremities associated with the facial involvement makes it possible to distinguish acrofacialdysostoses (Miller and Nager syndrome) which are genetically distinct from other oto mandibular dysplasias.