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At a glance

A distinct dysmorphic syndrome of congenital hydronephrosis, skeletal dysplasia (open cranial sutures, steep short skull, wide occipital synchondrosis) and severe developmental retardation. Coarse facies characterized by midface retraction, bulging forehead, facial hemangiomas, short nose with anteverted nostrils, protruding large tongue, and hypertelorism. Patient usually dies during infancy.

Synonym

Midface-Retraction Syndrome.

History

First described in 1978 in Zurich by Dr Albert Schinzel (geneticist) and Dr Andres Giedion, (pediatric radiologist).

Genetic inheritance

Autosomal dominant.

Incidence

Fewer than 50 cases described worldwide.

Pathophysiology

Mutations in SETBP1 located on 18q12.3 and encodes SET binding protein 1. Mutations in this gene are also thought to result in increase in myeloid malignancies.

Clinical aspects

Craniofacial: midface retraction, large fontanelles, hypertelorism, low-set ears, choanal stenosis, macroglossia, short, broad neck; hair: hypertrichosis; skin: facial telangiectasia, dermal ridge hypoplasia, narrow nails; cardiac: atrial septal defect, other cardiac defects; neurological: seizure, spasticity, developmental delay, cerebral atrophy; renal: hydronephrosis, hydroureter; skeletal: hypoplastic ribs and broad ribs, postaxial polydactyly, mesomelic brachymelia, hypoplastic distal phalanges, hyperdense long tubular bone, broad ribs, clubbed feet, polysyndactyly; growth: growth retardation. Affected patients usually die in early neonatal or infancy period secondary to respiratory failure and infections. Longest survivor 15 years.

Precautions before anesthesia

Assess for potential airway difficulty with presence of choanal stenosis, midface retraction, large tongue, and short neck. The cardiac function must be assessed for possible congenital heart defect with the aid of physical examination, ECG, chest radiograph, and echocardiogram. A complete evaluation of the respiratory function for evidence of respiratory failure must be obtained through a complete physical, chest radiograph, and blood gas analysis if indicated.

Anesthetic considerations

There are no anesthesia reports because of the early lethality. The airway should be assessed for difficult tracheal intubation and ventilation. Avoid nasal intubation if choanal stenosis is suspected. Nasal or facial surgery may lead to further upper airway compromise. Respiratory complication is frequent with pneumonia and upper airway obstruction. Intravenous access may be difficult with abnormal joint position.

Pharmacological implications

Anticonvulsant drugs should be continued throughout perioperative period. Drugs used should be tailored according to the cardiac and respiratory functions. Precautions for cardiac defect should include prophylactic antibiotics, avoidance of air embolism, and adequate rehydration.

Other conditions to be considered

  • Aicardi Syndrome: Rare disorder characterized by partial or complete agenesis of the corpus callosum, infantile spasms (spasm-like epilepsy), mental retardation, and an ocular abnormality called lacunae of the retina. Often associated with other features such as microcephaly and porencephalic cysts. The onset is generally between the age of 3 and 5 months. The ...

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