Abstract
Beighton and Kozlowski, in 1980, first defined this disorder, in Afrikaners, the syndrome , evident at birth, is constantly manifested by dwarfism, ligamentous hyperlaxity, congenital scoliosis, and multiple dislocations(hip dislocation, radial head dislocation, scoliosis, spatulate thumbs, and generalized ligamentous hyperlaxity, children are of normal intelligence potential.
We report A Tunisian family, in which the proband , and her parents family have the presumptive diagnosis of Beighton dysplasia(spondyloepimetaphyseal dysplasia), the proband manifested the full clinical criteria of the disorder, whereas the mother, and other family members are partially manifesting the disorder, but dysplastic hips is the common feature in most of the family members examined(from both paternal and maternal side), up to four family subjects are variably affected, ranging between congenital hip dislocation in two subjects and post adulthood dysplastic arthrosis.
The striking clinical findings evolved from the study is the accompaniment of diverse skeletal abnormalities rather than the hip dysplasia, the mother is with adolescent type kyphosis, and two other family subjects are with short stature and scoliosis, fractures were encountered in three family subjects, this was secondary to osteoporosis, which in fact a general clinical feature in all the family subjects.
The mode of inheritance of the disorder is compatible with autosomal recessive trait.
The purpose of this study is to indicate the importance of the precise recognition of the underlying etiologies in children presented with congenital dysplastic hips, as a matter of fact this is our main strategy in the department.
The abstracts were prepared by Mr Peter Kay, Editorial Secretary. Correspondence should be addressed to British Hip Society, The Hip Centre, Wrightington Hospital, Appley Bridge, Wigan, Lancashire WN6 9EP.
