Open AccessNance–Horan syndrome: A rare case report
Author(s) -
Shambhu N. Sharma,
Pankaj Datta,
Janak Raj Sabharwal,
S. Datta
Publication year - 2017
Publication title -
contemporary clinical dentistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.289
H-Index - 21
eISSN - 0976-237X
pISSN - 0976-2361
DOI - 10.4103/ccd.ccd_232_17
Subject(s) - microphthalmia , medicine , strabismus , rare disease , pediatrics , prognathism , malocclusion , dermatology , disease , genetic syndromes , dentistry , pathology , anatomy , genetics , biology , osteotomy , gene
Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.