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At a glance

It is a very rare inherited connective tissue disorder that is characterized by in 75% of affected children, blepharophimosis, a small mouth, micrognathia, kyphoscoliosis, radioulnar synostosis, and multiple joint contractures. Other clinical features include microcytic dysplastic kidneys, dextrocardia, Dandy-Walker malformation, agenesis of the corpus callosum, arachnodactyly, camptodactyly, cleft lip/palate or a high-arched palate, growth delay, and slow muscle movement.

Synonym

Connective Tissue Disorder Marden-Walker Type.

History

This medical condition was first described in 1966. The first case reported was an infantile girl with blepharophimosis, joint contractures, arachnodactyly, and delayed growth development. She died at 3 months of age as a result of severe pneumonia.

Inheritance

The exact incidence remains unknown. There have been 30 cases reported since 1966 in the medical literature. It affects males more often than females in a ratio of 11:3.

Genetic inheritance

It is inherited as an autosomal recessive trait.

Clinical aspects

Prenatal and severe postnatal growth deficiency; moderate-to-severe mental retardation with hypotonia; microcephaly with fixed facial expression and blepharophimosis; micrognathia and small mouth; seizures, ventricular dilation, cerebellar hypoplasia, agenesis of corpus callosum; multiple joint contractures present at birth; scoliosis, arachnodactyly; clubfeet; pectus excavatum or carinatum, absent clavicles (rare); pulmonary hypoplasia (rare). Most children die in early infancy as a consequence of aspiration, infection, or cardiac failure.

Precautions before anesthesia

Check antiepileptic treatment, chest radiograph (chronic aspiration, lung hypoplasia). Proper cardiac investigation must be obtained. Kidney function should be evaluated.

Anesthetic considerations

Be prepared for difficult direct laryngoscopy and tracheal intubation; patients are at risk for perioperative aspiration; difficult venous access and positioning caused by joint contractures.

Pharmacological implications

No specific implications, except in patients with kidney dysfunction and those receiving medications for seizures and cardiovascular problems.

Other conditions to be considered

  • Arthrogryposis Multiplex Congenita: Congenital disease characterized by reduced mobility of multiple joints present at birth as a consequence of proliferation of fibrous tissue. Severe joint contractures of all limbs are characteristics.

  • Schwartz-Jampel Syndrome: Characterized by the inability of muscles to relax after contractures (myotonia). Typical features include abnormal bone formation and abnormalities of the face and eyes, short stature, low birth weight, short neck, pectus carinatum, and kyphoscoliosis. It is inherited as an autosomal recessive trait.

  • van den Ende-Gupta Syndrome (VDEGS): It is considered a “Marden-Walker-like” disorder in which many of the skeletal symptoms previously described are present. The features that differ van den Ende-Gupta Syndrome are craniofacial and skeletal manifestations, mainly malar and/or maxillary hypoplasia, lower lip eversion, and long slender bones of hands and feet. Compared to Mallory-Weiss (MW) Syndrome, growth development is normal. It is a ...

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