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Query: UNIPROT:P50502 (Hip)
 7,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The goal in managing the lower extremity in a child with spina bifida is to achieve a pattern of development as near normal as possible. Lower limb deformities are produced by muscle imbalance, weight-bearing, and the postural effects of gravity. At any point in time, the management of the lower extremities will depend on the child's general development. Lower limb paralysis, hydrocephalus, bladder infections, hydromyelia, and Arnold Chiari malformation, all contribute to developmental delay. A child's potential for mobility varies with the severity of the motor and sensory deficit. Surgery is done to correct deformity, provide joint stability, and improve joint mobility. The results of surgery will be compromised if the child is not neurologically stable, or if appropriate therapy and orthotic care are not available. Muscle imbalance produces the problem of deformity and instability of the hip. Deformity must be corrected if the child is to assume an upright posture. Instability is of concern only in those children with a strong quadriceps muscle. Hip surgery for instability should be limited to one procedure, which must achieve a stable concentric reduction and balance the muscle forces about the hip. The common deformities seen at the knee are recurvatum, knee flexion contractures, and genu valgum. Most knee deformities can be corrected by soft tissue procedures. Well-designed orthoses rocker sole shoes, and appropriate gait training help prevent knee deformities. The goal in managing foot deformities is to achieve a plantigrade foot with stable skin. Whenever there is a problem with sensation, concentrated pressure in one area of a deformed foot will lead to skin breakdown. Surgical procedures must completely correct deformity and restore muscle imbalance. After surgery, meticulous orthotic care is required to prevent skin breakdown and avoid loss of correction. The orthopedist has a significant role in helping a child with spina bifida to achieve a pattern of development as near normal as possible. He or she must work in concert with a team of professionals and realize that orthopedic surgery is but an incident in the habilitative program. This rather chatty narrative is based on spina bifida care experience, in Sheffield, Toronto, and Chicago.
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PMID:Assessment and management of the lower extremity in myelodysplasia. 331 70

Data from 1500 patients affected by spina bifida have been collected in a multicentre study in Spain from 1986 to 1988. This paper is concerned with a part of the data, specifically regarding the walking of patients and certain factors that influence the prognosis for ambulation. The neurological level of lesion most commonly present was lumbosacral (65.6%). Hydrocephalus was frequent (62% of the sample), and has significant implications regarding prognosis for walking. Hip dislocation (32%) and scoliosis (22.9%) were orthopaedic problems noted in our sample. Pressure sores appeared in 31.7% of the patients. The onset of walking ability has been studied; 15% of the sample started walking at an age older than 5 years. Finally, different modalities of ambulation are described according to the use of ancillary devices, and in independence in activities of daily living.
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PMID:Ambulation in patients with myelomeningocele: a study of 1500 patients. 844 45

Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less severe forms of the disease are due to balanced translocation t (13;17) with life span up to the third decade of life. A majority of karyotypic males present as phenotypic females. We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm), dolichocephaly, hydrocephalus, short trunk and legs. Narrow rib cage, bowed lower extremities, short hand and foot phalanges, nail hypoplasia were noticed. Anterior fontanelle was enlarged, high forehead, face small and flat, hypertelorism, low nasal bridge, micrognathia, low set ears, cleft palate, were found. Characteristc skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented the following changes: anterior bowing of shortened femurs, hip dislocation, cervical vertebrae, scapulas, eleven pairs of slender ribs. Hip luxation. Karyotype was normal for a female, 46 XX. Respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients.
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PMID:[Camptomelic dysplasia--a case report]. 1763 24