Skip to Main Content

At a glance

It is an inherited disorder characterized by short stature, craniofacial anomalies, bilateral microtia, and absence of patellae. Other clinical features include microstomia, microcephaly, hypoplasia of the maxillary, and micrognathia. The skeletal anomalies include complete dislocation of the elbow, hooked clavicle, and clinodactyly.

Synonyms

Ear, Patella, Short Stature (EPS) Syndrome; Microtia, Absent Patellae Syndrome; Micrognathia Syndrome; Meier Rothschild Syndrome.

History

This medical condition was first described in 1959.

Incidence

The exact incidence remains unknown. Thirty-five cases have been reported in the medical literature.

Genetic inheritance

Autosomal recessive genetic disorder.

Pathophysiology

Unknown.

Diagnosis

Clinically; neuroradiographic imaging and functional inner ear investigations are recommended.

Clinical aspects

Short stature, very slender, poor weight gain, delayed bone age, and absent patellae may be signs, but they are more part of the delayed bone age. Habitual elbow dislocation, slender ribs, slender long bones, abnormal glenoid fossas, hooked clavicles, clinodactyly, epiphyseal flattening, camptodactyly, blunt osteochondritis dissecans, aseptal necrosis of the lateral femoral condyles, bilateral microtia with dysplasia of the labyrinthus, micrognathia.

Precautions before anesthesia

Evaluation of the airway for potential difficult laryngoscopy and tracheal intubation. Preoperative assessment should include radiography of the cervical spine and mobility of the neck. In the presence of craniofacial anomalies, an anesthesia consultation should be obtained before any elective surgical procedures.

Anesthetic considerations

Careful assessment of the upper airway abnormalities combined with cervical spine mobility that may affect direct laryngoscopy and tracheal intubation. Positioning and intravenous access may be difficult. If the craniofacial anomalies are significant, consider the presence of raised intracranial pressure (eg, craniosynostosis).

Pharmacological implications

If raised intracranial pressure is suspected, then a rapid-acting nondepolarizing muscle relaxant is preferable. In the case of major craniofacial surgery, hypotensive anesthesia technique may be considered. If venous gas embolism is a possibility, nitrous oxide should not be used.

Other conditions to be considered

It is suggested that this medical disorder is part of a group of syndromes called primordial dwarfism. As it is the case for the Meier-Gorlin Syndromes, they are characterized by skeletal dysplasia, intrauterine growth retardation, and the presence of varying degrees of short stature during childhood. These conditions include, besides Meier-Gorlin Syndrome, the Seckel Syndrome, Russell-Silver Syndrome, Majewski Osteodysplastic Bird-Head Dwarfism Types I/III, and Majewski Osteodysplastic Bird-Headed Dwarfism Type II.

  • Russell-Silver Syndrome: Rare genetic disorder characterized by prenatal or intrauterine growth retardation, hemihypertrophy or asymmetry, short stature usually defined as unusually small and thin for their ages. In more than 80% of affected individuals, the asymmetry or overgrowth of one ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.