Polymalformative syndrome characterized by multiple
skeletal anomalies, hydrocephalus, ptosis, myopia,
micrognathia, and retrognathia.
Only two reported cases involving dizygotic
female twins have been described. Presumed autosomal recessive inheritance.
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.
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