A RARE FAMILIAL CASE REPORT OF NAIL-PATELLA SYNDROME

CORRESPONDING AUTHOR:
Dr. B. Rakesh,
Assistant Professor,
Department of Radiodiagnosis,
ASRAM Medical College,
Eluru-534005, West Godavari District,
Andhra Pradesh.
Email: rajkiren@gmail.com
              

ABSTRACT: Nail-patella syndrome is a rare genetic disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia (HOOD syndrome), Fong’s syndrome, Turner-Kieser syndrome.⁽¹⁾ Posterior iliac horns are commonly found in this syndrome and are considered pathognomonic. In this case report we have described almost all the radiographic features of nail-patella syndrome including the pathognomic iliac horns and other skeletal features including absent or hypoplastic patellae, elbow abnormalities, as seen on radiographs. The magnetic resonance imaging (MRI) of the features of this syndrome has been mentioned in only one report,⁽²⁾ however, no images were actually presented. Considering the hereditary nature (autosomal dominant) of the syndrome we wanted to rule out whether any other member in the family are involved and to our surprise we found two other members(mother and elder brother) in the family with similar features.

KEYWORDS: Nail-Patella syndrome, hereditary onycho-osteodystrophy, fong’s syndrome.