Roberts' — SC phocomelia syndrome with cytogenetic findings

Summary This paper reports the physical and cytogenetic findings in an eight-year-old severely mentally retarded female child with the following features: tetraphocomelia; weight, lenght, and head circumference below the third percentile; microcephaly with prominent frontal bones; hypertelorism; shallow orbits; prominent eyes; bilateral corneal opacities; micrognathia; hypoplastic alae nasi; small, low set ears; short neck; sparse silvery blond hair; severe flexion deformities of both knees and wrist joints; a cardiac murmur. Cytogenetic studies revealed premature centromere separation.     

Costello syndrome in two siblings and minor manifestations in their mother. Further evidence for autosomal dominant inheritance?

We report on two siblings: the index patient, a 9 months old boy and his 2.5 years old sister, both presenting the main clinical signs and symptoms of Costello syndrome (CS): severe mental and motor retardation, feeding difficulties, failure to thrive in the first months of life, coarse facial appearance, skin hyperlaxity and skeletal deformities. Their mother presented with mild to moderate mental retardation, short stature, facial fullness and wart-like lesions on her face. The present observation confirms previous data on the apparent autosomal dominant pattern of inheritance in Costello syndrome with variable expression.     

Influence of altered gait patterns on the hip joint contact forces

Children who exhibit gait deviations often present a range of bone deformities, particularly at the proximal femur. Altered gait may affect bone growth and lead to deformities by exerting abnormal stresses on the developing bones. The objective of this study was to calculate variations in the hip joint contact forces with different gait patterns. Muscle and hip joint contact forces of four children with different walking characteristics were calculated using an inverse dynamic analysis and a static optimisation algorithm. Kinematic and kinetic analyses were based on a generic musculoskeletal model scaled down to accommodate the dimensions of each child. Results showed that for all the children with altered gaits both the orientation and magnitude of the hip joint contact force deviated from normal. The child with the most severe gait deviations had hip joint contact forces 30% greater than normal, most likely due to the increase in muscle forces required to sustain his crouched stance. Determining how altered gait affects joint loading may help in planning treatment strategies to preserve correct loading on the bone from a young age.     

A rational approach to nasal reconstruction in leprosy

Destruction of the nasal septum and nasal bones by Mycobacterium leprae and subsequent infection is still seen regularly in leprosy endemic areas. The social stigma associated with this deformity is significant. Many different procedures have been developed to reconstruct the nose. Patients operated on at Anandaban Hospital and the Green Pastures Hospital and Rehabilitation Center between 1986 and 2001 were reviewed. There were 48 patients with an average age of 47 years. Five deformities were mild, 22 were moderate, 13 were severe, and eight were not graded. Bone grafting with nasolabial skin flaps was performed in 14 cases, bone grafting alone was performed in 10 cases, flaps alone were performed in seven cases, and cartilage grafting was performed in 10 cases. In three patients, a prosthesis was inserted, and in three patients a gull-wing forehead flap was performed. Overall, excellent or good cosmetic results were obtained in 83 percent of cases. Grafting with conchal cartilage was associated with the best cosmetic results and had minimal complications. Bone grafting with or without nasolabial flaps was associated with a 50 percent complication rate of infection or graft resorption. In mild to moderate deformities, cartilage grafting is recommended; for more severe deformities, bone grafting with bony fixation and skin flaps is recommended. Perioperative antibiotics must be used, and these procedures should be performed by an experienced surgeon. In very severe cases with skin deficiency, reconstruction with a forehead flap gives good results.     

A technique of brachioplasty

Various techniques for the management of upper extremity contour deformities have been suggested since aesthetic brachioplasty was first described. Such deformities are commonplace with aging, after normal weight loss, and especially after massive weight loss such as is seen following bariatric surgery. Despite the multiplicity of procedures described for the correction of these deformities, there are still problems associated with current brachioplasty techniques, including incorrectly placed incisions, widened hypertrophic scars, and postoperative contour deformities. In addition, postoperative skin laxity and ptosis in the axillary region are frequently encountered in the more extreme deformities. The authors present their technique for upper extremity brachioplasty. This technique is suitable for patients with severe brachial ptosis and skin laxity, with relatively little lipomatous tissue, which may extend from the olecranon to the chest wall. The described surgical approach provides excellent overall extremity contour with favorable scars while simultaneously addressing axillary contour deformities.     

Anserina Bursitis—A Treatable Cause of Knee Pain in Patients with Degenerative Arthritis

The anserina bursa is located on the medial surface of the tibia deep to the tendons of the sartorius, gracilis, and semimembranosus muscles and superficial to the insertion of the tibial collateral ligament. Knee pain, a palpable swelling of the bursa, and tenderness over the medial anterior aspect of the tibia just below the knee are the hallmarks of anserina bursitis.In a three-year period, 24 patients with anserina bursitis were seen in a rheumatology clinic. All but one were women, 18 were obese, and only four were under 50 years old. Knee x-ray studies showed degenerative arthritis in 20 of the 24 patients. In ten, varus knee deformities were present, while three had valgus deformities.Ultrasound or local steroid injections gave dramatic relief in all but one patient.     

Rhinoplasty: a simplified, three-stitch, open tip suture technique. Part I: primary rhinoplasty

Tip suture techniques offer a reliable and dramatic method of tip modification without needing to interrupt the alar rim strip or add tip grafts. The present simplified three-stitch technique consists of the following: (1) a strut suture to fix the columella strut between the crura, (2) bilateral domal creation sutures to create tip definition, and (3) a domal equalization suture to narrow and align the domes. If required, columella septal sutures can be added; either a dorsal rotational suture or a transfixion projection suture can be used. This simplified method represents a refinement based on more than 13 years of experience with tip suture techniques. It does not require a complex operative sequence or specialized sutures. Primary indications are moderate tip deformities of inadequate definition and excessive width and certain specific tip deformities, including the parenthesis tip and nostril/tip disproportion. The primary contraindications are for patients with minor tip deformities that are best done through a closed approach and those with severe tip deformities requiring an open structure graft. The technique is simple, efficacious, and easily learned.     

Analysis and results of treatment of established posttraumatic facial deformities.

The clinical records of 125 patients undergoing treatment for posttraumatic facial deformities (PTFD) from 1979 to 1990 were retrospectively reviewed. Patients with complex fractures had a combination of at least three of the major fracture categories [Le Fort I, II, III; naso-orbital-ethmoid (NOE); zygomatic; frontobasilar; and mandibular]. Twenty-five patients (20 percent) were found to have severe posttraumatic facial deformities resulting from a complex facial fracture pattern. Sixteen were males and nine were females, and their ages at the time of our first reconstructive procedure ranged from 22 to 64 years (mean 33 years). All patients presented to our clinic with severe posttraumatic facial deformities from 1 month to 26 years (mean 5 years) after original injury. The number of prior reconstructive attempts averaged two (range 0 to 9). Arbitrary severity scores assigned by us were mild in 4, moderate in 12, and severe in 9 patients. Once treatment was initiated in our clinic, the average number of operations was 3.76 until completion (range 1 to 15). Surgical treatment was aimed first at reestablishing proper skeletal, vertical, transverse, and sagittal proportions. Once skeletal foundations were reset, the more delicate naso-orbital-ethmoid and lateral canthal relations were addressed. Of the 25 patients, 13 (52 percent) suffered a complication at some point during their surgical management. In these 13 patients, 20 complications occurred in a total of 94 operations for an overall complication rate of 21 percent. Fifteen of the 20 complications were related to infection. Skeletal abnormalities in patients with posttraumatic facial deformities can generally be corrected with current craniomaxillofacial techniques. Ultimately, an excellent result in terms of skeletal reconstruction is compromised by the status of the surrounding soft tissue. More in-depth knowledge of the nature and magnitude of the initial and subsequent soft-tissue injury will contribute to our ability to treat these disfiguring posttraumatic sequelae.     

Hereditary defect of the sacrum.

A family in which both the mother and two of her daughters had partial agenesis of the sacrum and coccygeal bones is presented. Further studies demonstrate a neurogenic bladder and a presacral mass in the 4-year-old girl who had severe urinary incontinence. The mode of inheritance in this entity may be x-linked dominant as has been suggested. Previously by Cohn and Bay-Nielsen (1969). The gene may act as a lethal factors in hemizygous males. A brief review of the literature showed a remarkable paucity of reports on the hereditary aspects of sacrococcygeal defects in man. It is concluded that this may be misleading, since the true incidence of hereditary sacroccygeal deformities can not possibly be established until family members of the probands are also examined radiologically.     

MUSCULOSKELETAL COMPLICATIONS OF HEMOPHILIA

Persons with hemophilia may be crippled by hemorrhages into soft tissue, the pressure destroying nerve and muscle. Recurrent bleeding into joints produces severe arthritis with synovitis and damage to cartilage and bone. The resulting deformities, even of long standing, may be greatly lessened, so far as impairment of function is concerned, by conservative orthopedic treatment. Treatment also may slow the progress of crippling deformities.     

Toxicity of diflubenzuron and pyriproxyfen to the predatory bugPodisus maculiventris

The susceptibility of the predatory pentatomidPodisus maculiventris (Say) to the insect growth regulators (IGRs) diflubenzuron and pyriproxyfen was investigated in the laboratory. Fifth-instar nymphs were exposed to formulated materials of each compound via direct contact, residual contact and ingestion. Diflubenzuron was harmless toP. maculiventris by direct and residual contact, but was highly toxic when ingested via drinking water. Pyriproxyfen caused severe deformities at ecdysis whatever the method of exposure. Exposure of fifth instars to sublethal concentrations (around LC₁₀) of both compounds had no adverse effects on reproduction of emerging adults. The data suggest that the use of these IGRs in the integrated management of insect pests should be evaluated with caution.     

Osseous pathologies in the lungless salamander Desmognathus fuscus (Plethodontidae)

The majority of reported pathologies in lissamphibians (salamanders, caecilians and frogs) include limb deformities such as missing limbs, multiple extra limbs and digits, or incomplete limb formation. However, comparatively little is known about congenital vertebral malformations or posttraumatic pathologies (e.g. injuries, infections) in the vertebral column of salamanders. In the present study, we describe eight vertebral deformities in three cleared and stained specimens of Desmognathus fuscus. Two specimens display developmental deformities which range from a potential non-segmented wedge vertebra to fully segmented hemivertebrae. The vertebral pathology in the third specimens possibly results from a parasitic infection. Apparently, these osseous deformities were not severe enough to prohibit survival of the specimens.     

产前超声诊断及漏诊胎儿肢体畸形分析

目的:探讨胎儿肢体畸形超声特征及诊断价值。方法:采用连续顺序追踪法对66342例妊娠12-40周孕妇行胎儿四肢畸形筛查。将产前超声诊断结果与引产或产后结果进行对比分析。结果:发生肢体畸形271例,发生率为0.41%(271/66342),包括四肢短小5例,桡骨发育不全1例,缺肢畸形5例,足内翻17例,手掌畸形3例,指趾畸形222例及骨骼多发畸形18例。其中产前诊断胎儿肢体畸形49例;漏诊222例,包括:足内翻3例、指趾畸形218例、多发骨骼畸形1例。胎儿肢体畸形的出现率和产前检出率分别为:四肢短小1.84%(5/271)、100%(5/5);桡骨发育不全0.36%(1/271)、100%(1/1);缺肢畸形1.84%(5/271)、100%(5/5);足内翻6.27%(17/271)、82.35%(14/17);手掌畸形1.10%(3/271)、100%(3/3);指趾畸形81.91%(222/217)、1.8%(4/222);多发骨骼畸形6.64%(18/271)、94.44%(17/18)。结论:超声对胎儿手掌、脚掌部位以上畸形的检出率较高。指趾畸形出现率最高,但检出率最低。     

Larsen syndrome associated with severe congenital hydrocephalus

Larsen syndrome associated with severe congenital hydrocephalus: Larsen syndrome (LS) is characterized by the association of flattened facies with a prominent forehead, a depressed nasal bridge and hypertelorism, dislocation of hips, elbows and knees, equinovarus or valgus deformities of the feet, long and tapering fingers, normal intelligence. Hydrocephalus has rarely been reported in association with LS. In this article, a newborn infant with the classical features of LS and severe congenital hydrocephalus is presented. Our purpose was to emphasize the importance of congenital hydrocephalus in infants with LS and to highlight the management of cases of LS associated with congenital hydrocephalus.     

Effect of rearing techniques on skeletal deformities and osteological development in red porgy Pagrus pagrus (Linnaeus, 1758) larvae

Red porgy is a candidate species for marine aquaculture diversification. The objective of the present study was to describe the osteological development in this species and the occurrence of skeletal deformities in relation to the intensification of the rearing system. Fish samples were periodically collected along the development from hatching to juveniles (95 days after hatching). Osteological development and the presence of skeleton abnormalities were evaluated. Larvae reared under S‐IS showed a better growth in terms of total length in comparison with IS reared ones. Regarding to osteological development for red porgy, this was similar between fish from both culture systems, but differing in timing of apparition and ossification of skeletal elements. X‐ray studies revealed a high number of fish with skeletal deformities (Semi‐intensive: 38.8%; Intensive: 46.5%), but no significant effect of the rearing technique on the incidence of deformities such as lordosis or fused vertebrae was found. However, cranial abnormalities and kyphosis incidences were significantly higher in intensive system cultured red porgy. These results, suggest a relationship among rearing technique, osteological development and the apparition of certain deformities.     

A review of 126 Caesarean sections by blood gas and the acid-base status of newborn calves

Blood gas and acid-base status was determined in 126 Caesarean-derived calves. The newborn calves were assigned by venous blood pH value at birth to three groups as follows: Group 1 (normal): pH above 7.2; Group 2 (slight acidosis): pH 7.2 to 7.0; and Group 3 (severe acidosis): pH below 7.0. Following Caesarean section births 80 (63.5%) calves had normal acid-base values, while 30 (23.8%) had a slight acidosis, and 16 (12.7%) had severe acidosis. The degree of hypoxia was similar in each group. Six calves (37.5%) in Group 3 died within 48 h of birth. The blood gas and acid-base status of Caesarean-derived. calves was not significantly influenced by any examined parameters with the exception of sex in Groups 1 and 2. The occurrence of meconium-stained calves was 9.1% (n = 11), and only two calves were slightly or severely acidotic immediately after birth.     

Aetiology of skeletal deformities in the Zebra Danio fish (Bruchydanio rerio, Hamilton-Buchanan)

Laboratory bred Zebra Danio ( Brachydanio rerio , Hamilton-Buchanan) tropical fish are prone to skeletal deformities resembling scoliosis and lordosis. This condition appears related to diet and has been studied by breeding from different broods of fish for three generations. Two broods bred using two commercially available tropical flaked foods developed severe spinal curvature three to six weeks post-hatching. A third brood of fish fed exclusively on live food did not develop any deformity. The results demonstrate that a dietary factor is responsible for the deformities and that the Zebra Danio is especially susceptible to this factor as other species breed normally when fed the same commercial diet. Analysis of the diets showed no deficiency in either ascorbic acid (Vitamin C) or tryptophan, deficiency of either being associated with scoliosis and lordosis in fish. The analysis did show, however, a relationship between the lead content of the diet and the incidence of deformities. Lead has previously been implicated in skeletal deformities in second and third generation Brook trout, Salvelinus fontinalis.     

Radical correction of secondary nasal deformity in unilateral cleft lip patients presenting late

It is universally acknowledged that correction of a cleft lip nasal deformity continues to be a difficult problem. In developing countries, it is common for patients with cleft lip deformities to present in their early or late teens for correction of severe secondary lip and nasal deformities retained after the initial repairs were carried out in infancy or early childhood. Such patients have never had the benefit of primary nasal correction, orthodontic management, or alveolar bone grafting at an appropriate age. Along with a severe nasal deformity, they present with alveolar arch malalignments and anterior fistulae. In the study presented here, a strategy involving a complete single-stage correction of the nasal and secondary lip deformity was used.In this study, 26 patients (nine male and 17 female) ranging in age from 13 to 24 years presented for the first time between June of 1996 and December of 1999 with unilateral cleft lip nasal deformity. Eight patients had an anterior fistula (diameter, 2 to 4 mm) and 12 patients had a secondary lip deformity. An external rhinoplasty approach was used for all patients. The corrective procedures carried out in a single stage in these patients included lip revision; columellar lengthening; repair of anterior fistula; augmentation along the pyriform margin, nasal floor, and alveolus by bone grafts; submucous resection of the nasal septum; repositioning of lower lateral cartilages; fixation of the alar cartilage complex to the septum and the upper lateral cartilages; augmentation of nasal dorsum by bone graft; and alar base wedge resections. Medial and lateral nasal osteotomies were performed only if absolutely indicated. The median follow-up period was 11 months, although it ranged from 5 to 25 months. Overall results have been extremely pleasing, satisfactory, and stable.In this age group (13 years of age or older), it is not fruitful to use a technique for nasal correction that corrects only one facet of the deformity, because no result of nasal correction can be satisfactory until septal deviations and maxillary deficiencies are addressed along with any alar repositioning. The results of complete remodeling of the nasal pyramid are also stable in these patients because the patients' growth was nearly complete, and all the deformities could be corrected at the same time, leaving no active deforming vector. These results would indicate that aesthetically good results are achievable even if no primary nasal correction or orthodontic management had been previously attempted.     

Optimizing the correction of severe postburn hand deformities by using aggressive contracture releases and fasciocutaneous free-tissue transfers

Severe postburn hand deformities were classified into three major patterns: hyperextension deformity of the metacarpophalangeal joint of the fingers with dorsal contracture of the hand, adduction contracture of the thumb with hyperextension deformity of the interphalangeal joint, and flexion contracture of the palm. Over the past 6 years, 18 cases of severe postburn hand deformities were corrected with extensor tenotomy, joint capsulotomy, and release of volar plate and collateral ligament. The soft-tissue defects were reconstructed with various fasciocutaneous free flaps, including the arterialized venous flap (n = 4), dorsalis pedis flap (n = 3), posterior interosseous flap (n = 3), first web space free flap (n = 3), and radial forearm flap (n = 1). Early active physical therapy was applied. All flaps survived. Functional return of pinch and grip strength was possible in 16 cases. In 11 cases of reconstruction of the dorsum of the hand, the total active range of motion in all joints of the fingers averaged 140 degrees. The mean grip strength was 16.5 kg and key pinch was 3.5 kg. In palm reconstruction, the wider contact area facilitated the grasping of larger objects. In thumb reconstruction, key-pinch increased to 5.5 kg and the angle of the first web space increased to 45 degrees. Jebsen's hand function test was not possible before surgery; postoperatively, it showed more functional recovery in gross motion and in the dominant hand. Aggressive contracture release of the bone,joints, tendons, and soft tissue is required for optimal results in the correction of severe postburn hand deformities. Various fasciocutaneous free flaps used to reconstruct the defect provide early motion, appropriate thinness, and excellent cosmesis of the hand.