A novel syndrome resembling Desbuquois dysplasia.
We report on three Tunisian siblings with a rare assortment of clinical and radiographic abnormalities closely resembling Desbuquois dysplasia. However, the siblings have had normal facies, normal hands, and were mentally normal. There were severe musculo-skeletal distinguishing features such as joint stiffness, severe kyphoscoliosis, and multiple large joint dislocations. Moreover, the patients had an additional remarkable radiographic feature not reported in Desbequois dysplasia-multiple carpal ossification centers. The diagnosis of Desbuquois dysplasia is more difficult in older children and adults as the characteristic facial features of early childhood may recede, and the metaphyseal growth plates obliterate. This condition of these patients represents a novel Desbuquois-like syndrome.
Al Kaissi
Ali
A
Department of Paediatric Orthopaedics, Children's Hospital, Tunis, Tunisia.
Nessib
N
N
Ghachem
M B
MB
Hammou
A
A
Guiddana
N
N
Kozlowski
K
K
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008663:Metacarpus / Q000002:abnormalities; D008682:Metatarsal Bones / Q000002:abnormalities; D009139:Musculoskeletal Abnormalities; D010009:Osteochondrodysplasias / Q000473:pathology*; D035781:Siblings; D013577:Syndrome; D014416:Tunisia; D014457:Ulna / Q000002:abnormalities