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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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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 ...