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Inherited syndrome with marfanoid features and X-linked mental retardation.

X-Linked Mental Retardation with Marfanoid Habitus Syndrome.

Approximately 59 cases reported up to 2005, almost exclusively in males.

X-linked dominant transmission with a greater expressivity and penetrance in males has been suggested.

Major criteria include mild-to-moderate mental retardation; marfanoid habitus; generalized hypotonia; hypernasal voice; normal secondary sexual development and normal or enlarged testicular size; characteristic craniofacial appearance with large forehead; contrasting long and narrow face; maxillary hypoplasia; long nose with high and narrow nasal bridge; short and deep philtrum; thin upper lip; and high-arched palate.

Patients appear tall and slender with long limbs and fingers (arachnodactyly). General muscular hypotonia and hyperlaxity of the joints are further features. Seizures are possible, and mental retardation is described as mild to severe. Partial or complete agenesis of the corpus callosum has been reported in some cases. A high forehead and a long, narrow face with hypoplastic mandible and micrognathia with a narrow and high-arched palate are typical. The nasal bridge is high, and the ears are low set and posteriorly rotated. Kyphoscoliosis and pectus excavatum are present in some cases. Cardiac defects (atrial septal defect) have been described, and two (related) patients were reported to have dilatation of the aortic root and a ventricular septa defect.

Depending on the severity of kyphoscoliosis, restrictive lung disease and cor pulmonale may be present. If kyphoscoliosis is significant, pulmonary investigations should include a chest radiograph, arterial blood gas analysis, and lung function tests (although they may be difficult to obtain in a mentally delayed patient). Preoperative assessment should include echocardiography to rule out congenital heart defects and to determine the size of the aortic root. Finally, the association of a hypoplastic mandible and micrognathia should prompt complete evaluation of the airway.

No reports referring to anesthesia were found. However, airway management could be challenging in the presence of the aforementioned facial anomalies. Therefore, proper preparation for difficult direct laryngoscopy and tracheal intubation should be planned. Patient compliance is likely to increase with sedative and anxiolytic premedication given that psychotic, autistic-like, and aggressive behavior have been reported.

Some patients are taking antiseizure medication. These drugs can induce hepatic enzymes, thereby altering the metabolism of other drugs with predominant hepatic clearance. Because of aortic root dilatation, these patients may also be on beta-blocker therapy.

De Die-Smulders Vles Fryns Syndrome: Genetic disorder characterized by a characteristic facies, marfanoid habitus, and mental delay.

Marfan Syndrome: Autosomal dominant connective-tissue disorder linked to the FBN1 gene on chromosome 15 that encodes fibrillin 1. Without fibrillin, many tissues are weakened, especially the joints, tendons, lens, and walls of major arteries. Aortic regurgitation and dissection are responsible for premature death in the third to fifth decade.

Congenital Contractural Arachnodactyly: Marfan-like appearance, “crumpled” ears, contractures of major joints, ...

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