title: Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas.
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.affiliation: The Institute of Child Health, Kolkata, India.
authors.forename: Rajoo
authors.initials: R
authors.lastname: Thapa
authors.forename: Shanto
authors.initials: S
authors.lastname: Pramanik
authors.forename: Maya
authors.initials: M
authors.lastname: Mukhopadhyay
authors.forename: Apurba
authors.initials: A
authors.lastname: Ghosh
mesh_terms: D000015:Abnormalities, Multiple; D003103:Coloboma / Q000209:etiology*; D003394:Craniofacial Dysostosis / Q000150:complications; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012127:Respiratory Distress Syndrome, Newborn / Q000150:complications