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At a glance

It is a very rare X-linked recessive syndrome characterized by severe mental retardation, seizures, deafness, failure to thrive, midface hypoplasia, microgenitalism, and early death. It is fully expressed in males only and present at birth or early into the first month of life. Affected children exhibit significant neurological developmental delays hypotonia, resulting in short stature. Other features include urogenital anomalies such as microgenitalism, microcephaly, depressed nasal bridge, and telecanthus. It is inherited as an X-linked recessive trait.

Synonyms

Juberg-Marsidi Mental Retardation Syndrome; X-Linked Microcephaly; Mental Retardation X-linked with Growth Delay Deafness Microgenitalism Syndrome.

Incidence

Incidence is unknown because only a few cases have been reported in the literature.

Genetic inheritance

It is inherited as X-linked recessive at the Xq12-q21 site. The syndrome has clinical similarities with the ☞ATR-X Syndrome (Alpha-Thalassemia, Mental Retardation, X-Linked Syndrome), which is associated with mutations of the X-linked nuclear protein (XNP) gene.

Clinical aspects

Clinical manifestations of this syndrome are apparent at birth or within the first few weeks of life. Moderate-to-severe mental retardation with developmental delay; hypotonicity; occasionally EEG abnormalities, clinical seizures, hearing loss, and microcephaly. Facial dysmorphism such as a flattened nose, high arched palate, ocular abnormalities, and telecanthus are frequent. Short stature secondary to delayed bone growth. Congenital heart disease has been reported but may not be systematically included in this condition. Genitourinary abnormalities, including undescended/atrophic testes and micropenis, are common. Other features include onychodystrophy and delayed bone age. The range and severity of symptoms vary among cases. Usually fatal in infancy or childhood.

Anesthetic considerations

Seizure control and potential interactions between anesthetic drugs and antiseizure medications (eg, phenytoin and carbamazepine may increase nondepolarizing muscle relaxant requirements). Antiseizure medication should be continued throughout the perioperative period. Severe muscle hypotonicity may predispose to perioperative respiratory insufficiency; consider judicious use of muscle relaxants. Consider an echocardiogram to rule out congenital heart disease. Renal function should be evaluated because of occasional incidence of hydronephrosis. Patients are perhaps at risk for recurrent urinary tract infections.

Other conditions to be considered

  • ATR-X Syndrome (Alpha-Thalassemia/Mental Retardation [ATR-X] Syndrome, Hemoglobin H [HbH] Disease): An acronym that stands for Alpha-Thalassemia, mental Retardation, and X-linked Syndrome. It is an extremely rare medical condition that is fully expressed in males only. It is characterized by alpha-thalassemia, microcephaly, midface hypoplasia, severe mental retardation, neuromotor dysfunction, seizures, genital abnormalities (shawl scrotum, cryptorchism, hypospadias and microphallus), and hypotonia. Occasionally the patient presents a ventricular septal defect and gastrointestinal reflux. This medical condition is inherited as an X-linked trait. ATR-X Syndrome and Juberg-Marsidi Syndrome are allelic disorders and associated with the X chromosome.

  • Borjeson Syndrome: Extremely rare medical condition characterized by craniofacial anomalies, mild to severe mental retardation, seizures, ...

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