Polymalformative syndrome characterized by multiple skeletal anomalies such as widened metaphyses, square shaped vertebral bodies, thirteen pairs of ribs, hooked clavicles, communicating hydrocephalus, ptosis, myopia, facial anomalies including micrognathia, and potentially severe retrognathia.
Dr Kazimierz S. Koslowski, a Polish pediatric radiologist, born June 6, 1928, in Poznan has contributed extensively to identify numerous important syndromic conditions.
Only two reported cases involving dizygotic female twins have been described.
It is possibly transmitted as autosomal recessive inheritance trait.
Craniofacial abnormalities included a long narrow head with communicating hydrocephalus, prominent forehead, large anterior fontanelle, midface hypoplasia, proptosis and hypertelorism, grooved retrognathic 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.
The presence of micrognathia and retrognathia are important considerations for possible difficult face-mask ventilation, direct laryngoscopy, and tracheal intubation. It is recommended to have available proper sizes laryngeal mask airway (LMA) at the time of the airway management. These patients may be prone to upper airway obstruction and postoperative care will have to take this into consideration based on extend of the surgical procedure performed. 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.
et al: A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus. Pediatr Radiol