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Characterized by short stature, brachydactyly, limitation of joint movement, microspherophakia, luxated lenses, glaucoma, and heart malformations (pulmonary stenosis, either valvular or subvalvular, and congestive cardiac failure).

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Spherophakia-Brachymorphia Syndrome; Congenital Mesodermal Dysmorphodystrophy; Dystrophia Mesodermalis Congenital Hyperplastica.

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Both autosomal dominant and autosomal recessive transmission have been reported. However, the latter is the most probable mode, since there is only a partial expression in heterozygote patients.

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The pathogenesis is unknown, but the similarities with Marfan syndrome suggest that a disorder of the connective tissue may be responsible.

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Mainly clinical, where ophthalmological findings and a particular somatic morphology leads to the diagnosis of the syndrome. Gene probably located at 19p13.3-p13.2.

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The ocular findings include bilateral microspherophakia and associated lens dislocation. Some patients also present with congenital glaucoma, or may develop in later years. The musculoskeletal characteristics are short stature with brachydactyly and joint stiffness, mainly in the elbows, wrists, and hands, but the hips and knees may also be involved. Others features include spina bifida occulta, abnormal vertebral size, cone epiphyses, metaphyseal anomaly, wide rib cage, myopathy, thickened skull with brachycephaly, and short neck. Cardiac problems mainly involve pulmonary stenosis, either valvular or subvalvular, that may lead to congestive cardiac failure if undiagnosed and untreated. Intelligence is normal.

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Obtain an ECG and an echocardiogram if there is a clinical suspicion of cardiac involvement. Evaluate the airway for a potentially difficult tracheal intubation (clinical, radiographs).

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Because of the joint stiffness, positioning might be more problematic and adequate padding is necessary to avoid compression injuries. If the patient has heart disease, the anesthetic should be managed according to the type of lesion.

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Antibioprophylaxis given as needed to prevent endocarditis as indicated. Medications for glaucoma include the organophosphates such as echothiophate and isofluorphate. These drugs inhibit serum cholinesterase, which is responsible for the hydrolysis and inactivation of succinylcholine and the ester-type local anesthetics (e.g. procaine, chloroprocaine and tetracaine). These ester-type local anesthetics should be avoided in patients treated with eyedrops containing organophosphate. Review current medication in view of glaucoma (avoid atropine and other drugs incriminated). Muscle relaxants should only be used after airway is secured and lung ventilation confirmed. Succinylcholine should probably be avoided because of myopathy and also in the presence of glaucoma.

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Marfan Syndrome: An inherited disorder that affects the connective tissue of the cardiovascular system. The musculoskeletal and ocular systems are also affected. Major features include unusual height, large hands and feet, severe lordoscoliosis, and pulmonary dysfunctions. It is inherited as an autosomal dominant trait.

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Ectopia Lentis: Characterized by partial or complete displacement of the lens of the eye. It may present as congenital or progressive after birth. It can also be associated as a result of trauma. In such cases, the condition may be present at birth or develop later during life. Simple ectopia lentis is usually ...

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