Disostosi acrofacciale di Nager: case report [Nager acrofacial dysostosis. Case report]

Nager acrofacial dysostosis is a rare congenital abnormality whose features include mandibulofacial dysostosis associated with limb malformations which affect in particular the radial part of hands. A girl presenting severe malformations as part of this syndrome came to our attention 4 years ago. Her malformations included severe bilateral mandibular hypoplasia, severe genian hypoplasia with bilateral interruption of the zygomatic arch, antimongoloid slant, bilateral coloboma of the lower lids and absence of lashes medially to it, bilateral external and middle ear malformations, ogival palate, virtual absence of the soft palate with ugola bifida and absence of thumbs. A review of international literature is herein presented. To date there are 52 known cases of live born in whom some major problems are present soon after birth: major breathing problems that sometimes require tracheostomy, feeding problems, speech and hearing impairment and sometimes problems with walking. The main points of treatment protocols for these patients are then reported: surgical (Maxillo-facial, ENT, Orthopoedics), medical (audiology, speech therapy) and nursing problems. The treatment used for this young patient is then described and stress is put on the need for a multispecialistic approach.