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Limbal dermoid in Nager acrofacial dysostosis: a rare case report.

Malik R, Goel S, Aggarwal S - Indian J Ophthalmol (2014)

Bottom Line: 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 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Oral Medicine and Radiology, Subharti Dental College and Hospital, Meerut, Uttar Pradesh, India.

ABSTRACT
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.

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Related in: MedlinePlus

Low-set ears along with presence of skin tags
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Figure 2: Low-set ears along with presence of skin tags

Mentions: 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. The right thumb of her right upper extremity was absent. Right forearm appeared short. All her vitals were within normal limits. 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. 3]. On the basis of examination and radiographic investigations, the patient was diagnosed as a case of Nager syndrome. The patient was uncooperative and refused any other treatment except for oral prophylaxis which we performed to relieve her from bleeding gums.


Limbal dermoid in Nager acrofacial dysostosis: a rare case report.

Malik R, Goel S, Aggarwal S - Indian J Ophthalmol (2014)

Low-set ears along with presence of skin tags
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4061675&req=5

Figure 2: Low-set ears along with presence of skin tags
Mentions: 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. The right thumb of her right upper extremity was absent. Right forearm appeared short. All her vitals were within normal limits. 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. 3]. On the basis of examination and radiographic investigations, the patient was diagnosed as a case of Nager syndrome. The patient was uncooperative and refused any other treatment except for oral prophylaxis which we performed to relieve her from bleeding gums.

Bottom Line: 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 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Oral Medicine and Radiology, Subharti Dental College and Hospital, Meerut, Uttar Pradesh, India.

ABSTRACT
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.

Show MeSH
Related in: MedlinePlus