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
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.
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