Distracción ósea en deficiencia longitudinal de miembro superior / Osseous distraction in longitudinal deficiency of thoracic limb

La distracción ósea ha ganado auge en la actualidad y sus aplicaciones son cada vez más diversas, sobre todo cuando se emplea para ganar longitud de estructuras óseas en niños. Presentamos el caso clínico de un niño de 3 años de edad con malformación congénita de miembro superior derecho consistente en alteración en el desarrollo longitudinal postaxial tipo Bayne IV, acompañado de acortamiento radial y fusión radio-humeral. Se trató en un primer tiempo quirúrgico mediante distracción simétrica uniplanar de radio y cúbito hasta lograr una elongación de 7.5 cm. de ambos huesos. En un segundo tiempo se retiró el distractor y se centralizó la mano. Seis meses después se realizó distracción del húmero con ganancia de 3 cm. que llevó la extremidad a una longitud igual a la de la extremidad sana y finalmente se realizó artrodesis funcional de la unión radio-humeral (AU)

At present, osseous distraction has been used increasingly and its applications are importantly extended above all to gain length in osseous structures in children. A 3 year old child case with congenital malformation of right thoracic limb consisting of alteration in the postaxial longitudinal development, Bayne type IV, accompanied by radial shortening and radius-humerus fusion is presented. He was treated by symmetric distraction uniplanar of radius and cubitus in the first surgical time, until reaching a 7.5 cm elongation of both bones. In the second surgical time the distractor was removed and hand centralized. Humerus distraction with a 3cm gain was done six months after, taking the limb to a length same with the healthy limb and finally a functional arthrodesis of the radius-humerus union was done (AU)

Evolution of the radiographic appearance of the metaphyses over the first year of life in type V osteogenesis imperfecta: clues to pathogenesis.

We present the first report of the development of characteristic radiologic appearances of long bones during the first year of life in an infant with type V osteogenesis imperfecta (OI). We show the evolution of metaphyseal abnormalities from a rickets-like appearance to the classically described dense metaphyseal bands. These abnormalities suggest that the underlying defect in type V OI may involve a molecule common to both bone and cartilage that is involved in the regulation of growth plate development and metadiaphyseal ossification. Our findings provide new insights into skeletal development in type V OI and potentially yield useful clues to the identity of the defect underpinning the condition.

Spondylometaphyseal dysplasia with cone-rod dystrophy.

PURPOSE: To report on the clinical ophthalmologic and radiographic findings in spondylometaphyseal dysplasia with cone-rod dystrophy. BACKGROUND: The spondylometaphyseal dysplasias are a rare and heterogeneous group of disorders characterized by skeletal abnormalities of the spine and the metaphyses of long bones. In rare instances, spondylometaphyseal dysplasia can occur concomitantly with ocular abnormalities including a retinal degeneration of the cone-rod dystrophy type. METHODS: Retrospective review of affected twin females with serial radiographic imaging, comprehensive ophthalmologic examination, fundus photography, and electroretinography. RESULTS: The major radiographic findings involved bony abnormalities of the spine, metaphyses of the long bones and a distinctive shape to the bony pelvis. Both twins had a fine nystagmus that was present by 10 months of age. Dilated ocular fundus examination revealed similar appearing bilateral, large, excavated, well-circumscribed oval areas of chorioretinal atrophy occupying the macula between the aracades. Electroretinography showed a significant reduction in the photopic responses and slight reduction in the scotopic component of the waveforms consistent with cone-rod dystrophy. CONCLUSIONS: Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare congenital disorder of unknown inheritance pattern and pathophysiolgy. The ocular manifestations appear to stabilize in early adolescence whereas the skeletal abnormalities are progressive with age.

Camptomelia in a rhesus macaque (Macaca mulatta).

An 8.5-mo-old female rhesus macaque was examined for an apparent lump on the right arm, below the elbow. The macaque showed no signs of pain or discomfort. Examination revealed that the lump was actually a bend in the forearm. Radiography demonstrated that some of the long bones of the animal were bowed. Differential diagnoses included rickets, hyperparathyroidism, pseudohyperparathyroidism, and a growth dysplasia. No other similar abnormalities in animals from that cage or any other enclosure in our large colony were observed. Blood chemistries and a complete hemogram were within normal limits for a macaque of this age. Serum was submitted for a vitamin D profile that included assays for parathyroid hormone, 25-hydroxyvitamin D, and ionized calcium. Serum samples from sex- and age-matched normal controls were sent for comparison and to establish a baseline profile. The affected animal had vitamin D levels comparable to unaffected controls. Bone biopsies appeared normal for a macaque of this age. Fluorine levels in the drinking water supply were within acceptable limits. Consistent with the information available, a diagnosis of idiopathic camptomelia, or bowing of the long bones, was made. In humans, developmental camptomelia is associated with several bone dysplasias in infants and children. These conditions are thought to be caused by genetic mutations in enzymes or transcription factors that control development of the epiphyses and are almost always associated with other lethal and nonlethal developmental abnormalities.

Congenital differences about the elbow.

The elbow is frequently affected by congenital differences that limit flexion-extension and supination-pronation. The limitation can occur in utero or develop over time. Delayed causes usually gradually disrupt the anatomy and function of the paired bone forearm. Accurate diagnosis is based on a careful examination and perusal of radiographs. Certain diagnoses can be helped by surgery and will result in improved limb usage and function. In contrast, other diagnoses are recalcitrant to modern operative techniques but will benefit from occupational therapy and adaptive equipment to enhance independence and activities essential to daily life. This article discusses diagnosis and treatment of synostosis, arthrogryposis, pterygium, multiple hereditary exostosis, and the unsalvageable forearm.

Skeletal asymmetry.

Bilateral variations in dimensions of upper and lower limb bones are attributable to difference in mechanical stress and strain that the bones are subjected to during bone growth, and is referred to as directional asymmetry. This skeletal asymmetry in the upper limbs is usually prominent on the dominant side while in lower limbs on the other side, possibly due to supportive contra lateral muscle contractions, that influence the bone growth. This contra lateral dominance in upper and lower limbs is known as cross-symmetry pattern. During skeletal remains examination, variations in different dimensions of long bones of an individual can result in erroneous opinion regarding number of individuals, especially in case of mass disasters. A case report of skeletal remains examination with review of relevant literature is presented where the different dimensions of right and left limb elements are measured and compared.

Mietens-Weber syndrome: two new patients and a review.

In 1966, Mietens and Weber reported four out of six siblings from a consanguineous couple with growth failure, dislocation of the head of the radii, bilateral flexion contracture of the elbows, short ulnae and radii, bilateral corneal opacities, horizontal and rotational nystagmus, strabismus, small, pointed nose and mild to moderate mental retardation. Since then, only three other cases have been reported. We report on two new cases, a pair of female twins aged 9 years. The patients were born after an uneventful, normal pregnancy, to young and non-consanguineous parents. After birth, physical findings included horizontal nystagmus and dislocation of both elbows because of abnormally short radii and ulnae in both twins. Further clinical examinations showed moderate psychomotor delay with marked language compromise. Karyotypes were normal in both girls. A review of the literature reveals that the Mietens-Weber syndrome is an uncommon disorder with a probable autosomal recessive pattern of inheritance. To our best knowledge, including the two cases reported here, only nine cases have been observed so far. The finding of congenital nystagmus and radii dislocation in a patient with mental retardation is probably nonrandom and is highly suggestive of Mietens-Weber syndrome.