a 16-year - old female patient came to department of oral medicine and radiology with chief complaints of bleeding from gums . on examination , she was thin built .
extraoral examination of face and skull revealed hypoplasia of the malar eminences and zygomata , hypoplasia of maxilla and underdevelopment of the mandible [ fig . 1 ] .
ears appeared low - set and rotated with presence of skin tags [ fig . 2 ] .
intraoral examination revealed inflamed gingiva due to poor oral hygiene . radiological examination supported the clinical findings .
patient was then referred to ophthalmology department where ocular examination showed downward slant of palpebral fissures , ptosis of upper lids and limbal dermoid in right eye measuring around 1  1 cm in diameter [ fig .
the patient was uncooperative and refused any other treatment except for oral prophylaxis which we performed to relieve her from bleeding gums .
extraoral examination of face and skull showing hypoplasia of the malar eminences and zygomata , hypoplasia of maxilla and underdevelopment of the mandible low - set ears along with presence of skin tags ocular examination showing limbal dermoid in right eye
the most ordinary type of acrofacial dysostosis is the nager type ( nafd ) of the so - called pre - axial acrofacial dysostosis .
this disorder is categorized by the office of rare diseases in the united states as a rare illness ; thus , it has only affected less than 200,000 of the country 's population .
some studies have shown that the gene which causes the illness might be located around 9q32 and it is possible that the zfp-37 gene could also be involved .
the major symptoms of nager syndrome often include the underdevelopment of the jaw and cheek areas , a jaw that may appear smaller than the usual or normal jaw , hearing problems ( and some defects on the external or internal ear area ) , cleft palate ( which is a congenital defect of the mouth or the lip ) , the absence or underdevelopment of the thumb or thumbs , forearms that appear short ( the forearms could altogether be absent of the radius bone ) , fusing of the bones of the forearms , poor elbow movements ( or limited extension of this body part ) , ears that appear to be backward rotated , the ears manifesting some skin tags ( or they could be low - set ) , and feeding and breathing problems ( especially among infants who are afflicted with this syndrome ) .
our patient showed underdevelopment of jaws , hypoplasia of the malar eminences , zygomata and hypoplasia of maxilla .
ocular manifestations of this syndrome are rare and include downward slant of palpebral fissures , ptosis of upper lids , coloboma of lower lids , and deficiency of eyelashes of the medial one - third of the lower eyelids .
our patient showed downward slant of palpebral fissures , ptosis of upper lids and limbal dermoid in right eye .
traditionally , the differential diagnosis of nager syndrome is done with treacher - collins , pierre - robin and goldenhar syndrome .
treacher - collins syndrome is characterized by maxilla and mandible hypoplasia , downslanting palpebral fissures , colobomas of inferior eyelid and auricular malformation .
pierre - robin syndrome presents with micrognathia , cleft palate and glossoptosis . in goldenhar syndrome
, we find hemifacial microsomy , flattening of maxilla , temporal and zygomatic bone , microtia , ocular and vertebral alterations , and in 50% of cases , fallot tetrad .
the echographic findings of these malformations become evident usually in the third trimester , therefore a systematic ultrasound exploration including visualization of fetal face line is essential for its detection .
if the patient suffers from speech retardation , then a speech therapist could help the patient .
they may not totally cure the condition , but they can help in managing the symptoms .
treatment of limbal dermoids may consist of periodic removal of irritating cilia , topical lubrication to prevent foreign body sensation , or excision of the lesion if it is causing significant cosmetic disfigurement or interfering with vision .
our patient refused to take any ocular treatment and insisted on taking only the dental treatment for which she visited our hospital .
correct understanding of the underlying pathophysiologic pattern of this disease is necessary for optimal diagnosis and treatment planning .
ophthalmological examination of these patients is a must as ocular manifestations are not uncommon in these patients .
 nager syndrome , also called preaxial acrofacial dysostosis , comprises two groups of defects involving the limbs and craniofacial region , respectively . 
 this syndrome is rare and only 70 cases have been reported in the literature . 
 the exact cause of this syndrome is unknown , but there is indication that it is genetically based . 
 ocular manifestations of this syndrome include widely separated downward slanting eyes , absence of eyelashes , ptosis of upper eyelids and colobomas on the inner aspect of lower eyelids . 
 we report limbal dermoid in a patient with nager syndrome . 
 we did not find such an association of  limbal dermoid in nager acrofacial dysostosis syndrome  on pubmed using nager acrofacial dysostosis , limbal dermoid and ocular manifestations as the keywords . 
Case Report
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