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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 (e.g., the fifth digits and, in some cases, the fourth and third digits) and hypoplasia of the ulna and occasionally the radius. It is believed to be transmitted in an autosomal recessive pattern.

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

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Very rare; fewer than 20 cases reported.

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Autosomal recessive.

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Unknown.

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

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Craniofacial anomalies include malar hypoplasia with micrognathia, cleft lip or palate; down-slanting 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 pectus excavatum. Intelligence is normal but often questioned because of hearing deficit.

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Complete preoperative workup for associated cardiac anomaly must be conducted. Evaluation of the airway and anesthesia consultation are indicated.

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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.

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

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Treacher Collins Syndrome: Disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present.

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Acrofacial Dysostosis Nager Type: Characterized by limb deformities consisting of absence of radius, radioulnar synostosis, and hypoplasia or absence of the thumbs. The mandibulofacial dysostosis is characterized by severe micrognathia and malar hypoplasia. Most reported cases have been sporadic.

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Goldenhar Syndrome: Congenital disorder that involves partial absence or an unusual slant of the upper eyelid, skull asymmetry, hemifacial atrophy, microtia, and cleft palate.

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Juberg-Hayward Syndrome: Disorder characterized by cleft lip and palate, microcephaly, hands deformities (e.g., thumbs and toes), and short stature.

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Hemifacial Microsomia: Incidence of 1:5000 live births and often considered a Treacher Collins-like syndrome. However, it is not genetic. It can cause abnormalities on both sides of ...

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