Spondyloepiphyseal dysplasia congenita: report of one case.
Spondyloepiphyseal dysplasia (SED) congenita is a rare disorder with autosomal dominant inheritance which demonstrates short stature since birth and displays progressive involvement of the spine and the epiphyses of long bones. We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment, and flat, avoid-shaped vertebral bodies. Neurological examination is normal. No specific biochemical change or intellectual impairment can be discerned.
Department of Family Medicine, China Medical College Hospital, Taichung, Taiwan.
S W
SW
Lai
F J
FJ
Tsai
C K
CK
Tan
C C
CC
Lin
C T
CT
Peng
C H
CH
Tsai
D002648:Child; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D011859:Radiography