In 1966, Desbuquois et al.,  reported two French sisters with severe disproportionate dwarfism, joint laxity and dislocations, and disorganised ossification of the hands and feet. Particularly of significance are the unique radiological features, which included supernumerary ossification centre at the base of the proximal phalanx of the index finger and the monkey wrench (Swedish key) configuration of the femoral necks. The monkey wrench appearance of the femoral neck first emerged as a prominence of the lesser trochanter before the typical spur developed -. Mesomelic shortness, prenatal growth deficiency, marked joint laxity as well as kyphoscoliosis and multiple joint dislocations. The limb shortening affecting all segments, flaring of metaphyses of long bones, marked defective ossification of the proximal epiphyses of long bones in contrast to advanced ossification of carpal/tarsal bones. Faivre et al.,  reported on the follow-up of 4 patients. All were obese and the facial characteristics, although still present, were less obvious. Other complications included, scoliosis, marked lordosis, coxa vara or valga and walking difficulties.
Faivre et al.,  divided their 35 patients into 2 groups - those with the classical hand malformation (an extra ossification centre distal to the second metacarpal or a delta phalanx of the thumb) and those with normal hands.
Le Merrer et al.,  suggested the homogeneity of the Desbuquois syndrome despite the variable expression. Hall  points out that death in early infancy can be common in the classical form of the condition.
Shohat et al.,  described seven cases and provided a good review. They point out the similarity of the hand changes to those seen in Catel-Manzke syndrome. The key features in recognising children with Catel-Manzke syndrome are micrognathia, cleft palate, glossoptosis and an accessory (usually triangular) bone at the base of the index finger. Clinically the children have the appearance of severe Pierre Robin Syndrome with Hyperphalangy and Clinodactyly.
Nishimura et al.,  reported a 14-year-old boy with radiological features of the condition (monkey wrench proximal femur, osteopenia, advanced carpal ossification) but with normal birth length, no facial dysmorphism, no radial deviation of the second digits and mild joint laxity. Height at 4 years was -5SD. Ogle et al.,  reported two cases with obstructive sleep apnoea. One case had a marked cervical kyphosis.
Al Kaissi et al.,  described three siblings with a rare assortment of clinical and radiological features of normal facies, normal hands, severe kyphoscoliosis, and multiple large joint dislocations. The overall clinical and radiographic phenotypes closely resembled Desbuquois dysplasia. Desbuquois dysplasia locus has been mapped to chromosome 17q25.3 .
Synophyrs, curly/curved and or prominent eyelashes, small short nose, and congenital cardiac defects are a constellation of features might be seen in Cornelia de Lange syndrome . The overall clinico-radiographic features do not fit our patient. The phenotype of our patient could be akin to Catel-Manzke syndrome or Larsen syndrome [9, 14]. In either case, however, there is absence of the "monkey wrench" configuration of the proximal femurs. Diastrophic dysplasia  is another clinical entity that might mimic Desbuquois dysplasia. Bieganski et al.,  reported two sisters with severe diastrophic dysplasia, primary kyphosis and "monkey wrench" appearance and absent patellae. Our patient illustrates different phenotypic and radiographic features. Interestingly precocious ossification of the patellae is not a feature in connection with diastrophic dysplasia. Other syndromes with multiple joint dislocations have been considered in the differential diagnosis such as spondylo-epi-metaphyseal dysplasia with joint laxity , and spondylo-epi-metaphyseal with multiple joint dislocations . Neither of these conditions fit the patient reported here.