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Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas.
Indian J Pediatr. 2006 Jul; 73(7):631-2.IJ

Abstract

Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas.

Authors+Show Affiliations

The Institute of Child Health, Kolkata, India.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16877861

Citation

Thapa, Rajoo, et al. "Nager Acrofacial Dysostosis: an Unusual Association With Both Upper and Lower Eyelid Colobomas." Indian Journal of Pediatrics, vol. 73, no. 7, 2006, pp. 631-2.
Thapa R, Pramanik S, Mukhopadhyay M, et al. Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. Indian J Pediatr. 2006;73(7):631-2.
Thapa, R., Pramanik, S., Mukhopadhyay, M., & Ghosh, A. (2006). Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. Indian Journal of Pediatrics, 73(7), 631-2.
Thapa R, et al. Nager Acrofacial Dysostosis: an Unusual Association With Both Upper and Lower Eyelid Colobomas. Indian J Pediatr. 2006;73(7):631-2. PubMed PMID: 16877861.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. AU - Thapa,Rajoo, AU - Pramanik,Shanto, AU - Mukhopadhyay,Maya, AU - Ghosh,Apurba, PY - 2006/8/1/pubmed PY - 2006/8/15/medline PY - 2006/8/1/entrez SP - 631 EP - 2 JF - Indian journal of pediatrics JO - Indian J Pediatr VL - 73 IS - 7 N2 - Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature. We describe the case of a one-day-old male neonate who presented with the typical features of the disease complex. Although normal life span has been reported, our patient died on the second day due to cardio respiratory failure. We report this case because of its rarity and an unusual associated feature of bilaterally symmetrical upper and lower eyelid colobomas. SN - 0973-7693 UR - https://www.unboundmedicine.com/medline/citation/16877861/Nager_acrofacial_dysostosis:_an_unusual_association_with_both_upper_and_lower_eyelid_colobomas_ L2 - http://www.diseaseinfosearch.org/result/148 DB - PRIME DP - Unbound Medicine ER -