Nance-Horan Syndrome: A Rare Case Report
Shambhu Sharma1, Pankaj Datta2, Janak Raj Sabharwal3
1Department of Pedodontics and Preventive Dentistry, Inderprastha Dental College and Hospital, Ghaziabad, Uttar Pradesh, India.
Contemporary Clinical Dentistry
|October 19, 2017
Summary
Nance-Horan syndrome, a rare X-linked genetic disorder, presents with distinct facial, ocular, and dental anomalies in males. This case highlights the syndrome
Area of Science:
- Genetics
- Ophthalmology
- Dentistry
Background:
- Nance-Horan syndrome is an extremely rare X-linked genetic disorder.
- It is characterized by a triad of facial dysmorphism, ocular abnormalities, and dental anomalies.
- The syndrome exhibits semi-dominant transmission, primarily affecting males.
Observation:
- A 9-year-old boy presented with clinical features consistent with Nance-Horan syndrome.
- Key observations included long face, prominent nose, mandibular prognathism, congenital cataract, microcornea, microphthalmia, strabismus, mulberry molars, and screwdriver-shaped incisors.
- Developmental delay and intellectual abnormalities were noted in approximately one-third of affected males.
Findings:
- The case report details the clinical and radiological manifestations of Nance-Horan syndrome.
- Genetic implications, including mutations in male gametes and transmission patterns, are discussed.
- The extreme rarity and unestablished incidence of the disease are emphasized.
Implications:
- Early diagnosis of Nance-Horan syndrome is crucial for managing associated health issues.
- Understanding the genetic basis aids in genetic counseling for affected families.
- Further research is needed to establish the incidence and long-term prognosis of this rare syndrome.
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