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Inherited disorder characterized by short stature, craniofacial anomalies, bilateral microtia, and absence of patellae. Other clinical features include complete dislocation of the elbow, hooked clavicle, and clinodactyly.

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


Autosomal recessive genetic disorder.


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

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.

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.

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 (e.g., craniosynostosis).

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.

Cohen A, Mulas R, Seri M, et al: Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: Clinical evaluation and analysis of possible candidate genes. Am J Med Genet 197:48, 2002.
Feingold M: Meier-Gorlin syndrome. Am J Hum Genet 109:338, 2002.  [PubMed: 11992493]
Loeys BL, Lemmerling MM, Van Mol CE, et al: The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. Am J Med Genet 84:61, 1999.  [PubMed: 10213048]

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