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PubMed2026

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss-of-function (LOF) variants in PIP5K1C, reported in only two families to date. It typically presents with severe fetal akinesia, arthrogryposis multiplex congenita, and perinatal lethality due to respiratory insufficiency case. Herein, we report a new case with survival beyond birth. Prenatal findings included clubfeet with preserved amniotic fluid volume and fetal movements. The infant was delivered by cesarean section at 37 + 7 weeks following breech presentation and developed respiratory distress requiring 14 days of ventilatory support. Physical examination revealed bilateral talipes equinovarus, flexion contractures of the knees, restricted hip mobility, clenched hands with flexion contractures of the third and fourth fingers, and hyperextension of the second and fifth fingers. Neurologically, he had encephalopathy, profound hypotonia with a frog posture, and abnormal neonatal reflexes with a discontinuous background pattern on cerebral function monitoring. Additional observed features were bilateral optic atrophy and hyperinsulinemic hypoglycemia responsive to Diazoxide. Trio genome sequencing identified a homozygous pathogenic splice-site variant in PIP5K1C (c.1127+1G>A, NM_012398.3). The infant died at 6 months from multisystemic failure. Further studies are warranted to elucidate the pathomechanisms underlying the PIP5K1C defect and its phenotypic consequences.

LCCS3↗
PubMed1992

Recurrent dislocation of the hip in adult paraplegics.

Recurrent dislocation of the hip is rare and has not previously been reported in adult paraplegics. This paper describes 3 cases. In one patient it was spontaneous, occurring 16 years after the original injury and was associated with a flexion-adduction contracture of the hip and a shallow acetabulum. One case occurred after minor trauma in a patient who experienced flexion-adduction spasms of the hip. In the third patient the condition was secondary to posterior acetabular deficiency following a conservatively treated fracture dislocation. All 3 patients experienced symptoms of disabling autonomic dysreflexia during the episodes of dislocation. The importance of recognising and adequately treating hip injuries in patients presenting with paraplegia secondary to spinal cord injury is stressed. In patients with spastic paraplegia presenting with recurrent dislocation of the hip, operative treatment combining a soft tissue repair and a bone block to augment the acetabulum is recommended.

Adult↗
PubMed1985

Neonatal nemaline myopathy presenting with multiple joint contractures.

A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not asphyctic, failed to establish spontaneous breathing and required immediate intubation and ventilation. Marked muscular hypotonia and weakness persisted and reflexes remained absent. Hip dislocation, joint contractures, absent palmar creases, prominent lateral palatal ridges and cryptorchidism were interpreted as consequent to prenatal paralysis. The boy died after 5 h due to hyaline membrane disease and meconium aspiration. At autopsy the skeletal muscles were found to be hypoplastic. The muscle fibres contained numerous rods, a typical finding of nemaline myopathy. Nemaline myopathy should be considered in fetuses and newborns with multiple joint contractures, severe muscular weakness and respiratory insufficiency.

Arthrogryposis↗
PubMedDate not supplied

A new case of Ullrich's disease.

A new case of congenital, hypotonic-sclerotic muscular dystrophy is presented. The patient showed congenital hyperlaxity and looseness of distal joints, muscle weakness, and spur-like protrusion of the calcaneus. Afterwards rapid progressive contractures of both knees and hip joints developed. Muscle biopsies revealed unequivocal dystrophic abnormalities and small atrophic fibers with numerous foldings of basal lamina suggestive of a neurogenic lesion. The disease presents clinical variability but the diagnosis is possible when a newborn shows: no dominant family history, slender body, marked distal joint laxity and hyperflexibility, proximal joint contractures and normal or slightly increased serum enzymes.

Child, Preschool↗
PubMed1997

Morphology of the acetabulum in hip dislocations caused by cerebral palsy.

Twenty-four hip joints in 20 children with spastic cerebral palsy were assessed by standardised three-dimensional reconstructions from computed tomographic scans. All the hip joints showed a channel-like ebony deformity of the acetabulum along which the femoral bead had slid out, indicating a unidirectional instability. The channel was oriented along the longitudinal axis of the body within a sector of 25 degrees anteroposteriorly. In relation to the pelvis, the dislocation was directed more dorsally by 20 degrees as a result of a flexion contracture of the hip. The size of the femoral head corresponded with the size of the acetabulum in every case, even in long-standing dislocations.

Acetabulum↗
PubMed2004

[The results of single-stage multilevel muscle-tendon surgery in the lower extremities of patients with spastic cerebral palsy].

OBJECTIVES: We evaluated the results of single-stage multilevel muscle-tendon surgery performed for the treatment of contractures in the lower extremities of patients with spastic cerebral palsy. METHODS: The study included 23 patients (11 girls, 12 boys; mean age 6 years 3 months; range 4 to 17 years) with spastic cerebral palsy, who underwent single-stage multilevel muscle-tendon surgery for the treatment of contractures in the lower extremities secondary to spasticity. Quadriplegia, diplegia, and hemiplegia were present in five, 14, and four patients, respectively. Preoperatively, 13 patients could walk, while 10 patients lacked ambulation even with support. Evaluations were based on pre- and postoperative (mean 4 years 9 months; range 1 to 8 years) physical examination findings and on the Gross Motor Function Classification System (GMFCS) scores. The patients' mean age at the last follow-up was 11.5 years (range 9 to 19 years). RESULTS: The range of motion of all the operated joints improved postoperatively, resulting in significant improvements in posture, sitting, gait, and hygiene of the patients. Of ten patients who could not walk, five could ambulate with the use of a walker or crutches postoperatively. The mean pre- and postoperative GMFCS scores were 3.045 and 1.864, respectively (p<0.001). All the patients showed an improvement of at least one GMFCS level. CONCLUSION: Surgery for spastic cerebral palsy can be most beneficial only when all contractures of the hip, knee, and ankle have been corrected. Symmetrical and multilevel operations should be performed when necessary, for single-stage and symmetrical multilevel muscle-tendon surgical applications have definite advantages over staged interventions.

Adolescent↗
PubMed1992

The influence of scoliosis brace treatment on function in children with myelomeningocele.

The influence of Boston brace treatment on the functional and motor ability of children with scoliosis secondary to myelomeningocele was studied in a consecutive series of 20 children of 5-19 years of age. Motor activity, ADL function and ambulation ability were assessed before brace treatment and then annually during the treatment period, which lasted an average of 2.7 years (range 0.6-8.7 years). Thirteen children were followed-up one year after braces were removed. The effect of brace treatment on the scoliosis was favourable as is reported elsewhere. The children's motor activity and ADL function remained unchanged during brace treatment, but brace wearing was accompanied by a decreased ambulatory skill. This may partly be explained by a slight increase of flexion contractures of the hips during treatment. Patients with useful ambulation ability kept this ability up even during brace treatment. Considering the favourable effect of brace treatment on the scoliosis curve and the few complications encountered, we recommend brace treatment for scoliosis in patients with myelomeningocele.

Activities of Daily Living↗
PubMed2002

Orthopedic issues after cerebrovascular accident.

Patients who have had a cerebrovascular accident with resultant hemiplegia often present to the orthopedic surgeon with characteristic complaints and deformities. The most common of these include muscle spasticity and contracture, shoulder pain, hip fracture, and heterotopic ossification. Although some of these disorders are clinically evident, others may be easily overlooked. The purpose of this article is to summarize the most common orthopedic aspects of hemiplegic patients who have had a cerebrovascular accident.

Activities of Daily Living↗
PubMed1979

Natural history of the dislocated hip in spastic cerebral palsy.

A review was made of 88 adult institutionalized patients with spastic cerebral palsy and contractural deformity of the hips. 21 were untreated for dislocated hip, and 11 of these suffered from hip pain. The degree of pain was directly related to neurological maturity and to the coexistence of athetosis and spasticity. Decubitus ulcers and perineal care problems were more associated with contractures than with dislocation alone. It is concluded that dislocation and subluxation should be prevented by surgical means, but that surgical treatment of the already dislocated hip should be reserved for the neurologically mature and athetoid patient.

Adult↗
PubMed1993

Rehabilitation approaches to children with osteogenesis imperfecta: a ten-year experience.

Twenty-five children with severe osteogenesis imperfecta were followed and treated with physical and occupational therapy for a mean of five years, two months, 80% since the first two years of life. According to their highest achieved motor skill, they fell into three groups: (A) able to stand in braces, (B) able to ambulate short distances without braces, and (C) able to ambulate in the community without assistance. Preventable functional impairment is caused in group A by shoulder joint and hand contractures and upper extremity weakness, group by hip flexion and plantar flexion contractures of the feet, shoulder joint contractures, and upper extremity weakness, and group C by poor lower extremity joint alignment, impaired balance, and low endurance. Appropriate rehabilitation strategies have led to slow, continued functional improvement in the majority of patients. Results of the ten-year retrospective study suggest that clinical groupings based in part on functional needs will enable the clinician to provide optimal rehabilitation services.

Braces↗
PubMed2002

[Treatment of stiff-knee gait by distal rectus femoris transfer].

OBJECTIVES: We evaluated the preliminary results of distal rectus femoris transfer in patients with stiff-knee gait due to cerebral palsy. METHODS: Eight knees of four patients who had stiff-knee gait due to cerebral palsy were treated by distal rectus femoris transfer. All the patients were females with a mean age of 11 years (range 9.5 to 12 years). Preoperatively and postoperatively, lower extremity examinations, the Ely test, and clinical gait analyses were performed. Satisfaction levels of the patients and their families were questioned. The mean follow-up was 17.5 months (range 3 to 23 months). RESULTS: None of the patients manifested flexion contracture of their hips and knees postoperatively. The Ely test was negative in all patients. There were no clinical signs of stiff-knee gait. All the patients and their families but one expressed their satisfaction with clinical and functional results. CONCLUSION: Our clinical results suggest that distal rectus femoris transfer is effective in the treatment of stiff-knee gait due to cerebral palsy.

Cerebral Palsy↗
PubMed2004

Modified supracondylar amputation of the femur.

The upper leg can be amputated at many levels starting with the through the knee amputation and ending with the hip disarticulation. The most common above the knee amputation is through the mid-femur, and this procedure is taught in most surgical programs in the United States. A new modification of the supracondylar amputation of the femur is herein described. A 20-year experience of over 200 procedures is reported using a new modification of the supracondylar amputation of the leg. Two deaths occurred, and a primary healing rate of 95 per cent was obtained. Revision to a higher level was required in only three patients. The advantages of the modified amputation procedure include short operative procedure, minimal blood loss, long femur stump, reduced pain, strong fascial closure, high rate of primary healing, and avoidance of a postoperative flexion contracture at the hip.

Amputation, Surgical↗
PubMed1998

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) in a 30-year-old woman is reported. At 21 weeks of pregnancy, routine fetal ultrasounds showed the presence of apparently isolated bilateral club feet. Fetal karyotyping documented an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5) (q15q31) in all 50 analyzed metaphases. Because such deletion is associated with severe psychomotor retardation, the pregnancy was terminated. Postmortem karyotyping of skin fibroblasts confirmed the presence of this interstitial de novo deletion in all mitoses. The breakpoints on 5q were analyzed by fluorescent in situ hybridization and were localized at 5q15 and q31.1. This case illustrates the importance of fetal karyotyping in cases of isolated club feet. At autopsy, the fetus presented had minor anomalies and contractures of knee and hip joints. These clinical findings could fit the diagnosis of congenital contractural arachnodactyly (CCA) or Beals syndrome. CCA is caused by a defect in the fibrillin-2 (FBN2) gene. This gene was previously mapped on 5q23-31. Our molecular studies of both parents and the fetus, using an intragenic polymorphic GT repeat, showed that the FBN2 gene was deleted in the fetus and that the de novo interstitial deletion occurred on the paternally inherited chromosome 5. Thus, CCA may be caused by a loss of function of the FBN2 gene. Clinical findings in this fetus and those of other described cases with interstitial 5q deletions are reviewed, and similarities with CCA are stressed.

Abnormalities, Multiple↗
PubMed2006

Efficacy of bosentan in treatment of unresponsive cutaneous ulceration in disabling pansclerotic morphea in children.

Disabling pansclerotic morphea (PM) of childhood is a rare and debilitating variant of localized scleroderma. We describe a 4-year-old girl with rapid progression of deep cutaneous fibrosis extending into the muscle fascia with disabling joint contractures of the hips, knees, ankles, and fingers and recalcitrant ischemic ulcerations. Within the first months of therapy with dual oral endothelin receptor antagonist bosentan (31.25 mg qd for 4 weeks [DOSAGE ERROR CORRECTED], then 31.25 mg bid) limb ulcers improved, with resolution of the widespread sclerotic skin lesions. Joint mobility improved, and a substantial decrease of skin thickness was noted. No side effects were noted. In the context of other data in scleroderma, bosentan may be a promising option in the treatment of PM.

Antihypertensive Agents↗
PubMed2000

Pena-shokeir type I syndrome with thymic and systemic lymphoid hyperplasia: report of an autopsy case.

We report a case of Pena-Shokeir type I syndrome in a female neonate who died of respiratory failure shortly after the birth at 32 weeks of gestation. In general appearance, she had apparent ocural hypertelorism, a depressed tip of the nose, low-set malformed ears, and microglossia in the head. There were severe contractures at the ankle, hand, fingers, and toes, and moderate contractures at the hip, shoulder, knee, and elbow. An autopsy analysis showed severe pulmonary hypoplasia and group atrophy of the skeletal muscle tissues. In addition to these findings which are well known characteristics of the infant with this syndrome, the thymus was markedly hyperplastic and lymph nodes were systemically swollen, especially the mesenteric ones which were visible and measured 2-5 mm in diameter. Histologically, the lymph nodes showed massive paracortical hyperplasia without apparent follicular structures, although no atypical lymphocytes were observed in both the thymus and lymph nodes. Immunohistochemically, proliferating lymphocytes seemed to be immature CD4+/CD8+ T cells, suggesting the insufficiency of T-cell negative selection in the thymus. This report is the first case of Pena-Shokeir type I syndrome with T-lymphocytic disorder.

Abnormalities, Multiple↗
PubMed2002

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones.

We recently found mutations of the transforming growth factor beta 1 (TGF-beta1) gene (TGFB1) in 9 families, in which progressive diaphyseal dysplasia (Camurati-Engelmann disease) is segregating [Kinoshita et al., 2000: Nat Genetics 26:19-20]. During the study, we encountered two unrelated girls, aged 17 and 11 years, who had clinical manifestations of the disorder, such as marfanoid habitus, waddling gait, muscular weakness, intense leg pain, flexion contracture of the hip and knee joints, delayed sexual development, increased serum alkaline phosphatase levels, and increased erythrocyte sedimentation rates. Radiographic studies in the two girls demonstrated not only diaphyseal dysplasia (cortical thickening of the diaphyses) resembling that of progressive diaphyseal dysplasia but also metaphyseal expansion of the long bones, coarse and thick trabeculae of the long and short tubular bones, striations in the spinal, pelvic, and long bones, and cranial sclerosis restricted to the petromastoid regions. These radiographic changes were overall identical with those seen in hyperostosis generalisata with striations of the bones rather than those in progressive diaphyseal dysplasia. Polymerase chain reaction-direct sequencing of all exons and their flanking regions of TGFB1 did not detect any mutations. PCR-single strand conformational polymorphism analysis of the TGF-beta type 1 receptor gene (TGFBR1) did not demonstrate any aberrant DNA fragments. We concluded from these findings that the two girls we described belong to a unique entity distinct from either of the two disorders.

Activin Receptors, Type I↗
PubMed1990

Expanded spectrum of findings in Marden-Walker syndrome.

Recently, we examined a small-for-gestational age infant with blepharophimosis, congenital contractures of elbows, hips, and knees, fixed facial expression, and hypotonia. These congenital anomalies are consistent with a diagnosis of the Marden-Walker syndrome. The infant also had an omphalomesenteric duct, left hypoplastic kidney, hypoplastic right lower lobe of the lung, and displacement of the larynx to the right; these anomalies have not been described previously in this syndrome. A summary of the clinical manifestations of the previously reported patients is presented.

Abnormalities, Multiple↗