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At a glance

It is a congenital disorder characterized by postaxial acrofacial dysostosis in association with severe postaxial limb deficiencies. The craniofacial malformations may include malar hypoplasia, micrognathia, cleft palate, small, protruding, “cup-shaped” ears, eye colobomas and ptosis, and ectropion. The limb abnormalities include incomplete hypoplasia, syndactyly, clinodactyly (eg, the fifth digits and, in some cases, the fourth and third digits), and hypoplasia of the ulna and occasionally the radius.

Synonyms

Postaxial Acrofacial Dysostosis Syndrome (POADS); Genée-Wiedemann Syndrome (formerly).

History

This medical condition was first described in 1969 by Ekkart Genée (b. 1936), a German ophthalmologist. He assumed this disorder to be an extreme variant of Treacher-Collins Syndrome (dysostosis mandibulofacialis). Hans Rudolf Wiedemann (1915-), a German pediatrician, in 1975 described it as a separate entity. Further cases were reported by L. S. Wildervanck in 1975 and by M. Miller, an American physician, in 1979. The syndrome was named the Genée-Wiedemann Syndrome in 1987.

Incidence

It is a very rare and the exact incidence remains unknown. There are fewer than 20 cases reported.

Genetic inheritance

It is believed inherited as an autosomal recessive trait.

Pathophysiology

Unknown.

Diagnosis

Clinical aspect similar to Treacher Collins Syndrome, but with postaxial upper and lower limb defects.

Clinical aspects

Craniofacial anomalies include malar hypoplasia with micrognathia, cleft lip or palate; downslanting palpebral fissures with lower-lid ectropion; eyelid coloboma; absent superior orbital ridge; hypoplastic, low-set ears. Sometimes choanal atresia. Limbs demonstrate absence of fourth or fifth ray in hands and feet; forearm shortening caused by ulnar hypoplasia; syndactyly. Cardiac defects in 30% of patients (atrial septal defect, ventricular septal defect, patent ductus arteriosus). Sometimes the patient present a pectus excavatum. Intelligence is normal but often questioned because of hearing deficit.

Precautions before anesthesia

Complete preoperative workup for associated cardiac anomaly must be conducted. The evaluation of the airway should encourage to ask for an anesthesia consultation.

Anesthetic considerations

Preparation for difficult tracheal intubation is the rule. Nasopharyngeal and laryngeal mask airway should be ready for use, as should special intubation devices such as fiberoptic laryngoscope, Bullard laryngoscope, and light wand, etc. Spontaneous ventilation should be maintained until airway is secured; venous access can be difficult because of limb defects. A laryngeal mask airway must be available in case of failure to ventilate or intubate. The presence of associated congenital heart defects also dictates the anesthetic plan. Hearing difficulties may complicate the induction period.

Pharmacological implications

Medicaments with ototoxicity must be avoided. In presence of cardiopathy, antibiotherapy must be considered.

Other conditions to be considered

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