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Polymalformative syndrome characterized by multiple skeletal anomalies, hydrocephalus, ptosis, myopia, micrognathia, and retrognathia.

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Only two reported cases involving dizygotic female twins have been described. Presumed autosomal recessive inheritance.

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Craniofacial abnormalities included a long narrow head with communicating hydrocephalus, prominent forehead, large anterior fontanelle, midface hypoplasia, proptosis and hypertelorism, grooved chin and small upturned nose, and mandibular hypoplasia (micrognathia). Musculoskeletal abnormalities included hooked clavicles, 13 pairs of ribs, large hands and feet with long, slender fingers, widened metaphyses, and square-shaped vertebral bodies, which developed over time as a sign of muscular hypotonia. Both patients were developmentally delayed and suffered from gastroesophageal reflux and recurrent respiratory infections. The only cardiac finding was a functional systolic murmur.

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Possibly difficult face-mask ventilation and direct laryngoscopy. These patients may be prone to upper airway obstruction. Raised intracranial pressure secondary to hydrocephalus should be considered. Hypotonia may predispose to respiratory fatigue and failure with increased work of breathing for same reason. Sensitivity to muscle relaxants may be increased. Additional respiratory compromise should be expected from repeated aspiration pneumonias due to gastroesophageal reflux. Reduced cooperation because of developmental delay is likely. Sedative premedication and/or the presence of the primary caregiver for induction of anesthesia may be helpful.

Kozlowski K, Brown J, Hardwick R, et al: A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus. Pediatr Radiol 22:328, 1992.  [PubMed: 1408436]

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