Weill-Marchesani Syndrome

At a glance

This is a medical condition characterized by short stature, brachydactyly, severe joint stiffness, microspherophakia, luxated lenses, glaucoma, and severe myopia. Other important clinical features include heart malformations such as pulmonary stenosis, either valvular or subvalvular, and congestive cardiac failure.

Synonyms

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

History

This medical condition was first described in 1932 by Oswald Marchesani (1900-1952), a German ophthalmologist, and George Weil (1866-1952), a French ophthalmologist. The clinical observations were subsequently expanded in 1936. The condition was first named for Marchesani work in 1936, but when Weill’s earlier report was recognized, the conjoined eponym came into general use.

Incidence

The exact incidence remains unknown. The prevalence has been estimated to be approximately 1 in 100,000 worldwide. It is reported common in the Amish religious isolate of the United States.

Genetic inheritance

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.

Pathophysiology

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

Diagnosis

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

Clinical aspects

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. Other 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.

Precautions before anesthesia

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).

Anesthetic considerations

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.

Pharmacological implications

Antibioprophylaxis given as needed to prevent endocarditis as indicated. Medications for glaucoma include the organophosphates such as echothiophate and isoflurophate. These drugs inhibit serum cholinesterase, which ...