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Concept: Congenital disorders of musculoskeletal system

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49, XXXXY is a rare aneuploidy and variant of Klinefelter syndrome, occurring in 1 per 80,000-100,000 live births. We present a cohort of 40 affected males, focusing on musculoskeletal problems. Subjects were participants in an annual 49er family support group meeting. Children were examined in a multidisciplinary clinic by a pediatric neurologist and geneticist, a pediatric orthopedist, a neurodevelopmentalist, and two physical therapists. The patient data were collected from this clinic from 2004 to 2012. All patients were required to have karyotypes that confirmed the presence of XXXXY. There was a high prevalence of musculoskeletal disorders, particularly hypotonia (34 patients [85%]), radioulnar synostosis (30 [75%]), pes planus (26 [65%]), asymmetric hip rotation (27 [67.5%]), and clinodactyly (24 [60%]). Other, less common lower-extremity disorders, included, 5 patients (12.5%) with unilateral club foot, 5 boys (12.5%) with pes cavus, 10 patients (25%) genu valgum and 2 children with genu varus (5%). To our knowledge, this is the first large cohort of boys with 49, XXXXY that focuses on musculoskeletal disorders. There was an increased incidence of hypotonia, clubfoot, avascular necrosis of the femoral head, radioulnar synostosis, and pes planus compared to the normative population. Boys with 49, XXXXY would benefit from multidisciplinary evaluations, particularly from pediatric orthopedists, physical therapists, neurologists, and geneticists for appropriate medical care. © 2013 Wiley Periodicals, Inc.

Concepts: Varus deformity, Neurology, Avascular necrosis, Klinefelter's syndrome, Aneuploidy, Genu valgum, Genu varum, Congenital disorders of musculoskeletal system

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Rigid equinovarus foot is a challenging problem. Talectomy has been advocated as a salvage procedure to achieve a plantigrade painless foot in the treatment of rigid equinovarus deformity. The present prospective observational study evaluated the effectiveness of talectomy in the treatment of Dimeglio grade IV rigid equinovarus feet. Nineteen feet in 13 patients were treated by talectomy from September 2001 through January 2012 (10-year, 2-month period). Of the 13 patients, 9 (69.23%) had a foot deformity due to arthrogryposis multiplex congenita and 1 (7.69%) each due to sacral agenesis, spastic cerebral palsy, neglected congenital talipes equinovarus, and post-traumatic contracture. Of the 13 patients, 9 (69.23%) were male and 4 (30.77%) were female. Their mean age was 7.7 (range 3 to 26) years. The mean follow-up duration was 6.4 (range 2 to 11) years. Along with talectomy, excision of the navicular was performed in 8 feet (42.11%), calcaneal osteotomy with a laterally based wedge in 8 (42.11%), and calcaneocuboid fusion in 3 feet (15.79%). Postoperatively, all the feet improved to Dimeglio grade II and were painless, and 16 feet (84.22%) were plantigrade; 1 foot (5.26%) had residual equinus resulting from incomplete removal of the talus and 2 (10.53%) had residual varus. Also, 3 feet (15.79%) had forefoot adduction (2 residual and 1 recurrent) that required a second surgery to correct the deformity. From our experience, talectomy is an effective procedure for correction of severe rigid equinovarus feet, provided that the talus is completely removed and the calcaneus is positioned correctly in the ankle mortise.

Concepts: Observational study, Foot, Cerebral palsy, Tarsus, Calcaneus, Club foot, Arthrogryposis, Congenital disorders of musculoskeletal system

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Flatfoot is a severe complication of extensive clubfoot surgery. In this retrospective study, we evaluated our results following flatfoot surgery in overcorrected clubfeet. The aim was to analyze the success of different surgical techniques, including tarsal osteotomies and arthrodesis, in correcting different types of flatfeet.

Concepts: Surgery, Orthopedic surgery, Surgical techniques, Arthrodesis, Club foot, Flat feet, Congenital disorders of musculoskeletal system

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After minimally invasive repair for pectus excavatum (MIRPE), similar procedures for pectus carinatum were developed. This study aimed to analyse the various published techniques of minimal access repair for pectus carinatum (MARPC) and compare the outcomes.

Concepts: Pectus excavatum, Sternum, Marfan syndrome, Pectus carinatum, Congenital disorders of musculoskeletal system

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Mutations in SZT2 were first reported in 2013 as a cause of early-onset epileptic encephalopathy. Because only five reports have been published to date, the clinical features associated with SZT2 remain unclear. We herein report an additional patient with biallelic mutations in SZT2. The proband, a four-year-old girl, showed developmental delay and seizures from two years of age. Her seizures were not intractable and readily controlled by valproate. She showed mildly dysmorphic facies with macrocephaly, high forehead, and hypertelorism, and also had pectus carinatum. An EEG showed epileptic discharges which rarely occurred. A brain MRI revealed a short and thick corpus callosum. Whole-exome sequencing detected compound heterozygous biallelic mutations (c.8596dup (p.Tyr2866Leufs(∗)42) and c.2930-17_2930-3delinsCTCGTG) in SZT2, both of which were novel and predicted to be truncating. This case suggested a broad phenotypic spectrum arises from SZT2 mutations, forming a continuum from epileptic encephalopathy and severe developmental delay to mild intellectual disability without epilepsy. The characteristic thick and short corpus callosum observed in 7/8 cases with epilepsy, including the proband, but not in three non-syndromic cases, appears to be specific, and thus useful for indicating the possibility of SZT2 mutations. This feature has the potential to make loss of SZT2 a clinically discernible disorder despite a wide clinical spectrum.

Concepts: Neurology, Epilepsy, Corpus callosum, Anticonvulsant, Seizure, Noonan syndrome, Pectus carinatum, Congenital disorders of musculoskeletal system

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Pectus excavatum and pectus carinatum are the most commonly seen anterior chest wall deformities. Recent studies reveal that minimal invasive repair of pectus deformities improves the quality of life. Our aim is to assess the psychosocial functioning and sociodemographic characteristics of pediatric patients with pectus deformities and evaluate the differences between patients operated on with minimal invasive repair techniques and nonoperated patients.

Concepts: Pectus excavatum, Chest, Sternum, Marfan syndrome, Pectus carinatum, Congenital disorders of musculoskeletal system

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Minimal invasive surgery has become the gold standard for surgical repair of pectus excavatum. The procedure can be performed as fast-track surgery and cosmetic results are excellent. In addition, cardiac performance improves after correction. With increased awareness on the Internet, the number of patients who seek help continues to rise, primarily for cosmetic reasons. Pectus carinatum is much less frequent than pectus excavatum. Over the past decade surgery has largely been replaced by compression techniques that use a brace, and cosmetic results are good. Rare combinations of pectus excavatum and carinatum may be treated by newer surgical methods.

Concepts: Surgery, Pectus excavatum, Sternum, Marfan syndrome, Pectus carinatum, Congenital disorders of musculoskeletal system

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This study describes the management of foot deformity in children. Severe congenital clubfeet treated using posteromedial release without talocalcaneal joint release were flexible and functional. Talectomy may be necessary for congenital clubfeet with arthrogryposis multiplex congenita. The diagnosis and severity of vertical talus were defined based on stress radiographs. For the deformity with spina bifida, a combination of talocalcaneal joint fusion and precise correction by soft tissue release and tendon transfer was performed. This combined surgery is effective, particularly in patients with equino-varus feet.

Concepts: Foot, Tissues, Subtalar joint, Russian language, Arthrogryposis, Congenital disorders of musculoskeletal system, Prime, Apostrophe

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Only a few studies report the long-term outcomes following repair of pectus excavatum (PE) and pectus carinatum (PC). Predictors of recurrence after surgery are important in this group of young patients. The purpose of this study was to assess the short- and long-term outcomes of both PE and PC and identify factors associated with postoperative complications and pectus recurrence.

Concepts: Pectus excavatum, Sternum, Marfan syndrome, Pectus carinatum, Congenital disorders of musculoskeletal system

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Craniosynostosis are rare congenital malformations of the skull resulting from the premature fusion of one or several cranial sutures. Prevalence is considered in approximately 1 on 2000 births. Non syndromic craniosynostosis (NSC) or isolated form are the most frequent forms (85 % of the cases). They are classified most of the time according to the synostotic suture(s) and the engendered cranial deformation: sagittal synostosis or scaphocephaly, metopic synostosis or trigonocephaly, bicoronal synostosis or brachycephaly, coronal synostosis or plagiocephaly and oxycephaly. Although the multifactorial origin is commonly admitted, the precise mechanisms which lead to the premature fusion of a suture, remain incompletely resolute. The main risks are the intracranial high blood pressure and its consequences on the psychomotor development, the visual or respiratory infringement which can require a surgery in emergency. The treatment is realized by multidisciplinary teams allowing to provide a strategy adapted to every situation. The decision-making process depends on patient’s age, on the type and severity of the craniosynostosis, and on the patient’s health. This surgery is ideally performed before the age of 1 year and indication only in morphological purpose is widely recognized to avoid any social damage to the child. The follow-up is essential and is made throughout the growth in particular to detect a recurrence or the evolution towards a complex form of craniosynostosis.

Concepts: Hypertension, Skull, Congenital disorder, Congenital disorders, Congenital, Craniosynostosis, Positional plagiocephaly, Congenital disorders of musculoskeletal system