Definition

The term anophthalmia means in theory the absence of the eyeball. In reality it is that of monophialmie which should be used instead. The anophthalmia is a congenital malformation characterized the absence of one or of two eyeballs. A normal existence is possible with an anophthalmia when it is isolated that there is no other serious malformations. Nevertheless, most often, the anophthalmia is generally accompanied other abnormalities of the skull and the central nervous system. The term monophthalmie, from the Greek monos meaning one and ophthalmos: eye, is the congenital absence of one eye. Generally the term anophthalmia whose meaning is used to designate this anomaly is a grammatical error. The Acorn term is used in common parlance to refer to a monophthalmie. In Ullrich-Feichtiger syndrome also known as typus rostockiensis because it is in Rostock, in Eastern Germany, that Feichtiger described him there is a dyscranio-pygophalangie. It is a set of malformations including a dwarfism with dystrophies of skull and face type acrocéphalie or or brachycéphalie, an undercover face and very few mobile with deformed ears, small jaw, space between eyelids (palpebral slit) narrow and sometimes an anophthalmia or microphthalmia (small size of the eyeballs). This complements the skeletal malformations polydactyly type (fingers in excess), clubfoot and spina bifida. The patient also has multiple malformations on the viscera. It is a syndrome that appears identical to that of Smith Lemli Opitz. Weyrs and Thier, syndrome also known as oculovertébral syndrome is a variety of syndrome of the first arch which includes: the eyeball to type of microphthalmia, anophthalmia, coloboma anomalies. In addition, Aplasia (lack of development) of the half face (there), and malformations of the vertebral bodies of the spine (vertebral column corresponding to the neck) that is of the cervical and dorsal vertebrae. These malformations are hémivertèbres (half of a vertebra), (cuneiform) or insufficiently developed vertebrae wedge (agénésiques).