Bone mineral density in adults with arthrogryposis multiplex congenita: a retrospective cohort analysis.

The primary objective of this study was to evaluate the prevalence of low femoral and lumbar spine bone mineral density (BMD) in adults with arthrogryposis multiplex congenita (AMC). We performed a retrospective cohort analysis of adults with AMC who were enrolled in the French Reference Center for AMC and in the Pediatric and Adult Registry for Arthrogryposis (PARART, NCT05673265). Patients who had undergone dual-energy X-ray absorptiometry (DXA) and/or vitamin D testing were included in the analysis. Fifty-one patients (mean age, 32.9 ± 12.6 years) were included; 46 had undergone DXA. Thirty-two (32/51, 62.7%) patients had Amyoplasia, and 19 (19/51, 37.3%) had other types of AMC (18 distal arthrogryposis, 1 Larsen). Six patients (6/42, 14.3%) had a lumbar BMD Z score less than - 2. The mean lumbar spine Z score (- 0.03 ± 1.6) was not significantly lower than the expected BMD Z score in the general population. Nine (9/40, 22.5%) and 10 (10/40, 25.0%) patients had femoral neck and total hip BMD Z scores less than - 2, respectively. The mean femoral neck (- 1.1 ± 1.1) and total hip (- 1.2 ± 1.2) BMD Z scores in patients with AMC were significantly lower than expected in the general population (p < 0.001). Femoral neck BMD correlated with height (rs = 0.39, p = 0.01), age (rs = - 0.315, p = 0.48); total hip BMD correlated with height (rs = 0.331, p = 0.04) and calcium levels (rs = 0.41, p = 0.04). Twenty-five patients (25/51, 49.0%) reported 39 fractures. Thirty-one (31/36, 86.1%) patients had 25-hydroxyvitamin D levels less than 75 nmol/l, and 6 (6/36, 16.7%) had 25-hydroxyvitamin D levels less than 75 nmol/l. Adults with AMC had lower hip BMD than expected for their age, and they more frequently showed vitamin D insufficiency. Screening for low BMD by DXA and adding vitamin D supplementation when vitamin D status is insufficient should be considered in adults with AMC, especially if there is a history of falls or fractures.

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.

CONTEXT: Congenital hypopituitarism (CH) is rarely observed in combination with severe joint contractures (arthrogryposis). Schaaf-Yang syndrome (SHFYNG) phenotypically overlaps with Prader-Willi syndrome, with patients also manifesting arthrogryposis. L1 syndrome, a group of X-linked disorders that include hydrocephalus and lower limb spasticity, also rarely presents with arthrogryposis. OBJECTIVE: We investigated the molecular basis underlying the combination of CH and arthrogryposis in five patients. PATIENTS: The heterozygous p.Q666fs*47 mutation in the maternally imprinted MAGEL2 gene, previously described in multiple patients with SHFYNG, was identified in patients 1 to 4, all of whom manifested growth hormone deficiency and variable SHFYNG features, including dysmorphism, developmental delay, sleep apnea, and visual problems. Nonidentical twins (patients 2 and 3) had diabetes insipidus and macrocephaly, and patient 4 presented with ACTH insufficiency. The hemizygous L1CAM variant p.G452R, previously implicated in patients with L1 syndrome, was identified in patient 5, who presented with antenatal hydrocephalus. RESULTS: Human embryonic expression analysis revealed MAGEL2 transcripts in the developing hypothalamus and ventral diencephalon at Carnegie stages (CSs) 19, 20, and 23 and in the Rathke pouch at CS20 and CS23. L1CAM was expressed in the developing hypothalamus, ventral diencephalon, and hindbrain (CS19, CS20, CS23), but not in the Rathke pouch. CONCLUSION: We report MAGEL2 and L1CAM mutations in four pedigrees with variable CH and arthrogryposis. Patients presenting early in life with this combined phenotype should be examined for features of SHFYNG and/or L1 syndrome. This study highlights the association of hypothalamo-pituitary disease with MAGEL2 and L1CAM mutations.

Paciente con asociación de síndrome uña-rótula y artrogriposis múltiple congénita. Evolución clínico-radiológica / Patient with association of nail-patella syndrome and multiple congenital arthrogryposis. Clinical radiological evolution

RESUMEN La asociación de la artrogriposis múltiple congénita con el síndrome uña -rótula es rara, porque ambas patologías son infrecuentes. Debido a la gran variedad de manifestaciones clínico-radiológica de ambos síndromes, es necesario conocer el cuadro clínico de cada una de ellas para poder identificar el origen de todas las afectaciones encontradas en el paciente, una vez alcanzada la adultez. Se presentó un paciente adulto tratado durante su infancia en el Hospital Pediátrico “Eliseo Noel Caamaño”, de Matanzas, con la asociación de ambas entidades, con el fin de observar su estado anatómico, funcional y radiológico actual. El objetivo fue estudiar la evolución clínico-radiológica del paciente a través del tiempo. Se concluyó que en este tipo de patologías se producen severas deformidades del Sistema Osteomioarticular, así como de otros sistemas, por lo que se requiere de un trabajo multidisciplinario y de un estricto seguimiento para lograr personas útiles a la sociedad a pesar de sus limitaciones físicas (AU).

ABSTRACT The association of multiple congenital arthrogryposis with nail-patella syndrome is rare, because both pathologies are infrequent. Due to the great range of clinical radiological manifestations of both syndromes, it is necessary to know the clinical characteristics of each of them to identify the origin of these affections found in the patient after reaching the adulthood. It is presented an adult patient treated during the childhood in the Pediatric Hospital ¨Eliseo Noel Caamaño¨, of Matanzas, with the association of both entities, to observe his current anatomic, functional and radiological status. The aim was studying the patient´s clinical radiological evolution through the time. The conclusion we arrived at was that this kind of pathologies produce severe deformities of the Osteomyoarticular System and also of other systems, so it is required a multidisciplinary approach and a strict follow-up to offer the society useful persons in spite of their physical limitations (AU).

Paciente con asociación de síndrome uña-rótula y artrogriposis múltiple congénita. Evolución clínico-radiológica / Patient with association of nail-patella syndrome and multiple congenital arthrogryposis. Clinical radiological evolution

RESUMEN La asociación de la artrogriposis múltiple congénita con el síndrome uña -rótula es rara, porque ambas patologías son infrecuentes. Debido a la gran variedad de manifestaciones clínico-radiológica de ambos síndromes, es necesario conocer el cuadro clínico de cada una de ellas para poder identificar el origen de todas las afectaciones encontradas en el paciente, una vez alcanzada la adultez. Se presentó un paciente adulto tratado durante su infancia en el Hospital Pediátrico “Eliseo Noel Caamaño”, de Matanzas, con la asociación de ambas entidades, con el fin de observar su estado anatómico, funcional y radiológico actual. El objetivo fue estudiar la evolución clínico-radiológica del paciente a través del tiempo. Se concluyó que en este tipo de patologías se producen severas deformidades del Sistema Osteomioarticular, así como de otros sistemas, por lo que se requiere de un trabajo multidisciplinario y de un estricto seguimiento para lograr personas útiles a la sociedad a pesar de sus limitaciones físicas... (AU)

ABSTRACT The association of multiple congenital arthrogryposis with nail-patella syndrome is rare, because both pathologies are infrequent. Due to the great range of clinical radiological manifestations of both syndromes, it is necessary to know the clinical characteristics of each of them to identify the origin of these affections found in the patient after reaching the adulthood. It is presented an adult patient treated during the childhood in the Pediatric Hospital ¨Eliseo Noel Caamaño¨, of Matanzas, with the association of both entities, to observe his current anatomic, functional and radiological status. The aim was studying the patient´s clinical radiological evolution through the time. The conclusion we arrived at was that this kind of pathologies produce severe deformities of the Osteomyoarticular System and also of other systems, so it is required a multidisciplinary approach and a strict follow-up to offer the society useful persons in spite of their physical limitations...(AU)

Anaesthesiology for Children With Arthrogryposis.

Patients with arthrogryposis often require anesthesia for surgical procedures. Intubation can be challenging due to lack of visualization. Anesthetic maintenance is fairly routine. Pheripheral blocks are an important adjunct to postoperative pain management.

Multidisciplinary Clinics.

More than 400 acquired and genetic diseases are labeled as arthrogryposis. Because of their rarity and complexity coordinated patient management is often lacking. Multidisciplinary clinics are the ideal setting to provide coordinated and comprehensive care to patients with special needs. Two similar experiences of multidisciplinary clinics for the care of patients with arthrogryposis were reported at the Symposium on Arthrogryposis held in Saint Petersburg in September 2014. These clinics are organized to bring together professionals from several disciplines, with the aim to provide patient-centered, comprehensive clinical care, and reduce the burden of multiple medical appointments for the families.

Congenital malformations and other reproductive losses in goats due to poisoning by Poincianella pyramidalis (Tul.) L.P. Queiroz (=Caesalpinia pyramidalis Tul.).

In the semiarid region of Brazil, in areas with vegetation composed mainly of Poincianella pyramidalis, several cases of congenital malformation and reproductive losses were observed in goats and sheep from 2012 to 2014. To determine the teratogenic effect of P. pyramidalis, two groups of eight goats each were used. Goats from Group 1 received fresh P. pyramidalis, harvested daily, as the only roughage during the whole breeding and pregnancy period. Goats in Group 2 (control) received Cynodon dactylon (tifton) hay free choice. Ultrasound examination for pregnancy diagnosis was performed every 28 days. Four goats from Group 1 were pregnant on day 28 but not on day 56, suggesting embryonic death or abortion. Another goat from Group 1 died at day 70 of pregnancy, and the fetuses exhibited micrognathia. The other three goats bore six kids, three of which showed bone malformations in the limbs, spine, ribs, sternum, and head, including arthrogryposis, scoliosis and micrognathia. One kid also showed hypoplasia of the left pulmonary lobes. In the control group, all goats bore a total of 13 kids and none of them exhibited malformations. These results demonstrated that P. pyramidalis causes congenital malformations and other reproductive losses in goats.

Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years.

We describe two proof-of-concept trials of delayed non-operative therapy of multiple hand and wrist contractures in a woman with a severe expression of Freeman-Sheldon syndrome (FSS), at ages 24 and 28 years. Having presented as an infant to a university referral centre, passive correction was not accompanied by strengthening exercises, and correction was lost. FSS is described as a myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling face appearance, H-shaped chin dimpling, nasolabial folds, and multiple hand and foot contractures. Spinal deformities, metabolic and gastroenterological problems, other craniofacial characteristics, and visual and auditory impairments, are frequent findings. To avoid possible FSS-associated complications of malignant hyperthermia and difficult intubation, and to reduce or eliminate need for surgery, we proceeded with passive manipulation without anaesthesia or sedation. We believe this is the first report of attempted non-operative correction of multiple hand and wrist contractures in an adult with FSS.

Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy.

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant disorder associated with recurrent mononeuropathies following compression or trivial trauma. Reports on sciatic neuropathy as the presenting manifestation of HNPP are very scarce. We report on a 21-year-old previously healthy man who was admitted with sensorimotor deficits in his left leg. He had no history of preceding transient episodes of weakness or sensory loss. Clinical and electrophysiological examinations were consistent with sciatic neuropathy. Cerebrospinal fluid investigation and MRI of the nerve roots, plexus, and sciatic nerve did not indicate the underlying aetiology. When extended electrophysiological tests revealed multiple subclinical compression neuropathies in the upper limbs, HNPP was contemplated and eventually confirmed by genetic testing.

Proceso rehabilitador de artrogriposis múltiple congénita / Rehabilitating process of arthrogryposis multiplex congenital

Se presentó un caso de artrogriposis múltiple congénita, femenina, blanca, con un coeficiente intelectual de 90, con posible compromiso orgánico, de discreta dislalia, sin alteraciones visuales ni auditivas, colaboradora, comunicativa, sin dominio motriz, remitida al equipo rehabilitador por el Hospital Frank País de La Habana en 2004. El objetivo es valorar el resultado de los tratamientos sicoterapéutico y rehabilitador. Se describe todo el proceso de rehabilitación inicial contenido en la estrategia colectiva multidisciplinaria para la atención a la paciente, comenzando con terapias de apoyo sicológico integral, ejercicios respiratorios y entrenamiento familiar; 2 meses después de forma secuencial se utilizó una combinación de agentes físicos, termoterapia, masaje, electroterapia, y kinesiología, se produce un retroceso por dificultades en los flexores de la rodilla que motivó una segunda intervención. A los 4 meses sigue la estrategia rehabilitadora, que continúa en la actualidad con ganancia marcada en nivel de autoestima y autoconfianza en ella misma, para la realización de las actividades del tratamiento y de la vida diaria como lavarse la boca, peinarse, vestirse, deambular por la casa y comunicarse con vecinos, amigos y familiares; fortaleza de grupos musculares debilitados, movilizaciones con la ortesis con total grado de independencia del técnico y familiares, tanto en ida y regreso de los tramos trabajados, que primero fueron de 10 m, después se le aumentó a 15 m y así se realizaron aumentos progresivos en diferentes etapas hasta llegar a 50 m. Se concluyó que mejoró 80 por ciento con el tratamiento planificado, así como su calidad de vida y la reincorporación a la sociedad(AU)

A case of arthrogryposis multiplex congenital was presented. She was a white female patient with intellectual coefficient of 90, possible organic implication, discrete dyslalia, without visual or hearing alterations, cooperative, communicative, without motor control that was referred by Frank País Orthopaedic Hospital in Havana City in 2004. The objective is to assess the results of both rehabilitation and psychotherapy treatments. All initial rehabilitation process included in the multidisciplinary collective strategy for the patient's attention was described, beginning with comprehensive psychological support therapies, respiratory exercises and family training. Two months later, in a sequential form, a combination of physical agents, thermotherapy, massage, electrotherapy and kinesiology was used. There was a relapse due to difficulties in the knee flexors that led to a second surgical procedure. Four months later, a strategy for rehabilitating the patient began which continued to the present time with a marked enhance of self-esteem level and self- confidence to follow both treatment and daily life activities such as to brush her teeth, to comb her hair, to get dressed, to wander around the house and to communicate with neighbours, friends and relatives. Also, there was strength in the debilitated muscle groups and mobilizations with orthosis with total degree of independence from technicians and family members when going back and forth in the sections worked which corresponded to 10 m at the beginning and were increased later to 15 m, accomplishing progressive increases in different stages to finally reach 50 m. It is concluded that the patient's condition improved an 80 percent with the treatment, as well as her quality of life and her return to society(AU)

Proceso rehabilitador de artrogriposis múltiple congénita / Processus de rééducation après une arthrogrypose multiple congénitale / Rehabilitating process of arthrogryposis multiplex congenital

Se presentó un caso de artrogriposis múltiple congénita, femenina, blanca, con un coeficiente intelectual de 90, con posible compromiso orgánico, de discreta dislalia, sin alteraciones visuales ni auditivas, colaboradora, comunicativa, sin dominio motriz, remitida al equipo rehabilitador por el Hospital Frank País de La Habana en 2004. El objetivo es valorar el resultado de los tratamientos sicoterapéutico y rehabilitador. Se describe todo el proceso de rehabilitación inicial contenido en la estrategia colectiva multidisciplinaria para la atención a la paciente, comenzando con terapias de apoyo sicológico integral, ejercicios respiratorios y entrenamiento familiar; 2 meses después de forma secuencial se utilizó una combinación de agentes físicos, termoterapia, masaje, electroterapia, y kinesiología, se produce un retroceso por dificultades en los flexores de la rodilla que motivó una segunda intervención. A los 4 meses sigue la estrategia rehabilitadora, que continúa en la actualidad con ganancia marcada en nivel de autoestima y autoconfianza en ella misma, para la realización de las actividades del tratamiento y de la vida diaria como lavarse la boca, peinarse, vestirse, deambular por la casa y comunicarse con vecinos, amigos y familiares; fortaleza de grupos musculares debilitados, movilizaciones con la ortesis con total grado de independencia del técnico y familiares, tanto en ida y regreso de los tramos trabajados, que primero fueron de 10 m, después se le aumentó a 15 m y así se realizaron aumentos progresivos en diferentes etapas hasta llegar a 50 m. Se concluyó que mejoró 80 por ciento con el tratamiento planificado, así como su calidad de vida y la reincorporación a la sociedad(AU)

A case of arthrogryposis multiplex congenital was presented. She was a white female patient with intellectual coefficient of 90, possible organic implication, discrete dyslalia, without visual or hearing alterations, cooperative, communicative, without motor control that was referred by Frank País Orthopaedic Hospital in Havana City in 2004. The objective is to assess the results of both rehabilitation and psychotherapy treatments. All initial rehabilitation process included in the multidisciplinary collective strategy for the patient's attention was described, beginning with comprehensive psychological support therapies, respiratory exercises and family training. Two months later, in a sequential form, a combination of physical agents, thermotherapy, massage, electrotherapy and kinesiology was used. There was a relapse due to difficulties in the knee flexors that led to a second surgical procedure. Four months later, a strategy for rehabilitating the patient began which continued to the present time with a marked enhance of self-esteem level and self- confidence to follow both treatment and daily life activities such as to brush her teeth, to comb her hair, to get dressed, to wander around the house and to communicate with neighbours, friends and relatives. Also, there was strength in the debilitated muscle groups and mobilizations with orthosis with total degree of independence from technicians and family members when going back and forth in the sections worked which corresponded to 10 m at the beginning and were increased later to 15 m, accomplishing progressive increases in different stages to finally reach 50 m. It is concluded that the patient's condition improved an 80 percent with the treatment, as well as her quality of life and her return to society(AU)

Le cas d'une patiente de la race blanche, d'un quotient intellectuel de 90, communicative, collaboratrice, atteinte d'arthrogrypose multiple congénitale, avec possible compromis organique, une discrète dyslalie, sans altérations visuelles ni auditives, sans domaine motrice, est présenté en 2004 à l'équipe de rééducation de l'hôpital Frank Pais, à La Havane. L'objectif est d'évaluer le résultat des traitements psychothérapiques et de rééducation. Tout le processus initial de rééducation contenu dans la stratégie pluridisciplinaire pour soigner la patiente a été décrit, en débutant par des thérapies d'appui psychologique intégral, des exercices de respiration et entraînement familial; deux mois après, une combinaison d'agents physiques, thermothérapie, massage, électrothérapie et kinésithérapie a été utilisée de façon séquentielle. Il y a eu une complication des fléchisseurs du genou conduisant à une deuxième opération. La stratégie de rééducation a continué depuis 4 mois jusqu'à présent ayant des effets positifs sur son amour-propre et confiance en elle-même pour réaliser les activités de son traitement et de sa vie quotidienne, telles que se brosser les dents, se peigner, s'habiller, déambuler et se communiquer avec ses voisins, amis et famille. Grâce au traitement planifié, sa récupération a été très bonne (80 pourcent), et sa qualité de vie et réinsertion à la société excellentes(AU)

The hypothetical role of congenital hypotonia in the development of early coronoid hyperplasia.

BACKGROUND: Coronoid hyperplasia (CH) is an abnormal bony elongation of a histologically normal coronoid process. Its definitive cause remains unknown. OBJECTIVES: To analyze the possible implication of congenital hypotonia in the pathogenesis of early coronoid overgrowth. PATIENTS AND METHODS: Two infants with congenital hypotonia were evaluated for limited mouth aperture. Bilateral CH was diagnosed. Transoral coronoidectomy was followed by an early dynamic physiotherapy program. RESULTS: Significant improvement of maximum interincisal opening was achieved. The review of the scientific literature proved the diagnosis of CH in the infant age group is extremely unusual and the etiology of the condition is still uncertain. CONCLUSIONS: Besides mouth opening restriction, clinical features of coronoid hyperplasia in infants can include suction or deglutition anomalies, failure to thrive and recurrent episodes of choking or aspiration pneumonia. The authors hypothesize reduced fetal mandibular movements and deglutition as a result of congenital hypotonia may lead to relative hyperactivity of the temporalis muscle that is not counterbalanced by the infra and suprahyoid muscles, thereby facilitating coronoid overgrowth.

[Musculoskeletal treatment of a 11-year-old patient with arthrogryposis]. / Muskuloskeletal behandling af 11-årig med artrogrypose.

A two-year-old patient was diagnosed with arthrogryposis because of inflected knees (15-20 degrees) and stiff hamstrings. All joints and reflexes were normal. Activities were described as age-appropriate, but the patient walked with inflected knees and increased lumbal lordosis. Physiotherapy and botox did not improve the condition. Because of pain and hampered activities, the patient - now aged 11 years - was treated with musculoskeletal medicine. After treatment the patient could walk normally without pain and stand with stretched knees.

Correction of arthrogrypotic clubfoot with a modified Ponseti technique.

Surgical releases for arthrogrypotic clubfeet have high recurrence rates, require further surgery, and result in short, painful feet. We asked whether a modified Ponseti technique could achieve plantigrade, braceable feet. Ten patients (mean age, 16.2 months; range, 3-40 months), with 19 arthrogrypotic clubfeet, underwent an initial percutaneous Achilles tenotomy to unlock the calcaneus from the posterior tibia followed by weekly Ponseti-style casts. A second percutaneous Achilles tenotomy was performed in 53%. Mean number of casts was 7.7 (range, 4-12). From pretreatment to completion of initial series of casts, mean scores of Dimeglio et al. improved from 16 to 5 (ranges, 12-18 and 2-9, respectively), Catterall scores (as modified by Pirani and colleagues) from 4.8 to 0.9 (ranges, 1.5-6.0 and 0.0-2.0), and maximum passive dorsiflexion from -45 degrees (range, -75 degrees to -20 degrees ) to 10 degrees (range, 0 degrees to 40 degrees ). Ankle-foot orthoses maintained correction. At the minimum followup of 13 months (mean, 38.5 months; range, 13-70 months), the mean maximum dorsiflexion was 5 degrees (range, -20 degrees to 20 degrees ), two patients had posterior releases and no patient's ambulatory ability was compromised by foot shape. Arthrogrypotic clubfeet can be corrected without extensive surgery during infancy or early childhood. Limited surgery may be required as the children age.

Ex utero intrapartum treatment procedure in a patient with arthrogryposis multiplex congenita, using continuous spinal anesthesia and intravenous nitroglycerin for uterine relaxation.

The ex utero intrapartum treatment procedure allows for the controlled management of a potentially life-threatening difficult airway in the newborn. General anesthesia has previously been reported for the management of this procedure. We report the use of continuous spinal anesthesia in conjunction with intravenous nitroglycerin for the ex utero intrapartum treatment procedure in a woman with arthrogryposis multiplex congenita, a rare syndrome characterized by rigid joints and limb contractures.

Arthrogryposis multiplex congenita, AD 1156.

A case of arthrogryposis multiplex congenita in an eight-year-old girl was recounted by Thomas of Monmouth in a mid twelfth-century English hagiographic narrative, The Life and Miracles of St William of Norwich. The child had deformities of both hands and both feet at birth, and she developed torticollis and probably had some degree of hypotonia. She needed total care, her family took her to the tomb of St William in the cathedral at Norwich. This visit produced some sort of improvement in her health. Her parents, seeking a miracle, were satisfied that one had occurred.

Arthrogryposis multiplex congenita.

Arthrogryposis Multiplex Congenita is a congenital syndrome characterized by multiple contractures, rigid joints, and significant limitation of movement. Intervention, beginning in infancy, requires a comprehensive, holistic, family-centered approach. Long-range goals include achieving maximum range-of-motion and independence in accomplishing activities of daily living. Nursing care must address the developmental, physical, and emotional needs of the child as well as the psychologic concerns and educational needs of parents. The nurse acts as the coordinator of care to assure that the child receives all necessary services, including therapy, social services, and community support. Collaboration between nurse, parents, and other health care providers is crucial to the development and implementation of a long-term therapeutic plan of care which will enhance mobility and independence.

Comprehensive management of arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita syndrome, characterized by multiple congenital joint contractures, is a manifestation of a neurogenic or myopathic disorder of unknown etiology. An accurate diagnosis is critical in management strategy. Muscle biopsy is usually the most important diagnostic procedure. Once the diagnosis is established, a team approach to comprehensive care is instituted, and the child is assisted in achieving maximum cognitive, physical, and social development. Physicians, nurse clinicians, therapists, social workers, and others constitute the team and work in coordination to develop an individual habilitation plan. The treatment plan is continually updated and modified as needed. Because the musculoskeletal deformities are generally the most prominent abnormality, the orthopedist usually has the major role in management. The orthopedist may serve as coordinator of the comprehensive care team and therefore must have a fundamental understanding of and global approach to management.