The boy was referred to the orthopaedic department because of multiple limb defects for clinical assessment and treatment. He was a product of uneventful gestation. At birth his growth parameters were around the 10 Th percentile. The mother was a 26-year-old gravida 2 abortus 0 married to a 28-year-old related man (first cousin). Pregnancy history was negative for exposure to drugs or teratogens. Family history was unremarkable. At birth a near normal facies but with bilaterally dysplastic ears, associated with profound shortening of the upper limbs and a unilateral lower limb defects were present. Bilateral and symmetric radial ray and thumb aplasia associated with lower limb inequality secondary to a unilateral tibiofibular hypoplasia and hypoplasia of the terminal phalanges was the most prominent major abnormalities. He underwent a series of orthopaedic interventions. Primarily, the thumbs were absent on both sides (fig 1). The patient had reconstruction of the thumbs with pollizisation of the second finger. This means a rotation-osteotomy of the second finger to the thumb position with reconstruction of the commissural between the new reconstructed thumbs and the second finger, which was originally the third finger. Anteroposterior radiograph of the upper limbs after the reconstruction showed profound radial aplasia, metaphyseal cupping associated with hypoplastic/defective ossification of the carpal bones. Pseudoepiphyses with proximally situated newly reconstructed thumb (fig 2)
At the age of 4 years Ilizarov technique was performed to correct the lower limb defects (Distraction osteogenesis, this refers to the induction of new bone between bone surfaces that are pulled apart in a gradual, controlled manner). His subsequent course of development particularly the motor and the fine movements have been of significant retardation because of the profound limb defects. No medical history of serious illnesses.
Examination at the age of eight years, showed a boy with normal intelligence with normal speech, hearing and vision. Craniofacially, his face was minimally dysmorphic. Bilateral dysplastic ears, and extension of his hair to the lateral part of the forehead were present. Clinically the nose looks normal but radiographically there was mild nasomaxillary hypoplasia. The spine showed significant thoracic kyphosis.
He had a short stature of -2 SD, profound and bilateral mesomelic shortening of the upper limbs (absent radii) associated with oligodactyly (bilateral absence of the first fingers) and partial syndactyly. A unilateral tibiofibular hypoplasia was evident with subsequent development of ball and socket (ankle joint) deformity in connection with absent talus. Mild hypoplasia of the terminal phalanges of the deformed lower limb was present. Laboratory studies showed normal white and red blood cell and platelet counts, normal calcium, phosphorus, and alkaline phosphatase levels. Urine aminoacids and mucopolysaccharides were normal, and he had a normal karyotype. No specific genetic testing has been designated for this child. Renal ultrasound and echocardiodoppler were normal. On the bases of skeletal survey, the lateral skull radiograph showed unusual skull-base sclerosis associated with J-shaped cella turcica and a large sphenoid sinus, multiple patent sutures, mild nasomaxillary/mandibular hypoplasia and odontoid hypoplasia (fig 3). Lateral spine radiograph showed malsegmentation of the upper thoracic vertebrae associated with scalloping of the posterior-end plates of the lumbar vertebrae. There was exaggerating lumbar lordosis associated with thoracic kyphosis (fig 4). Anteroposterior radiograph of the lower limbs showed profound unilateral tibiofibular hypoplasia with subsequent development of ball and socket ankle joint secondary to fibular-tarsal dysplasia. The right tibia showed relative hypoplasia. Dysplasia of the tarsal and the metatarsals and hypoplasia of the terminal phalanges were evident (fig 5). Ilizarov technique has been successfully performed for the lower limb deformity. The discrepancy in the muscle bulk of the lower limbs was secondary to disuse atrophy (fig 6).