Handigodu disease: a radiological study. A new variety of spondyloepi(meta)physeal dysplasia of the autosomal dominant type.
Handigodu disease is a new syndrome of familial spondyloepi(meta)physeal dysplasia. It is inherited as an autosomal dominant trait. The disease is prevalent in a localised area of South India. On the basis of detailed clinical, anthropometric and radiological investigations of 234 affected individuals, it has been observed that different clinical presentations reflect variation in the severity of the disease. All of them could be explained as being caused by defective development of bones as a result of monogenic disorder.
Agarwal
S S
SS
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Phadke
S R
SR
Phadke
R V
RV
Das
S K
SK
Singh
G K
GK
Sharma
J P
JP
Teotia
S P
SP
Saxena
B N
BN
D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000000981:diagnostic imaging; D005260:Female; D006621:Hip Joint / Q000000981:diagnostic imaging; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D010375:Pedigree; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging