Kenny-Caffey, syndrome
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(Kenny-Caffey-Linarelli syndrome, KCS1, KCS2)
Very rare. Autosomal dominant (type 2) or recessive (type 1) transmission of mutations of the TBCE gene (tubulin-specific chaperone E) in 1q42-q43.
Harmonious dwarfism (size < P2 for age) with normal intelligence with:
- hypoparathyroidism with hypocalcemia and sometimes tetany, or neonatal seizures
- macrocephaly with delayed closure of the anterior fontanelle
- dysmorphic face, sometimes micrognathia
- anemia
- bone anomalies: cortical thickening and medullary stenosis of the long bones, absent diploic space at the level of the skull bones
- ocular: myopia, microphthalmia, papillary pseudoedema
- dental anomalies: small teeth, caries
- partial deafness
- a case of associated Mounier-Kuhn syndrome (= tracheobronchomegaly with communicating paratracheal cysts) (see this term)
Anesthetic implications:
risk of difficult intubation, avoid hyperventilation (tetany)
References :
Updated: February 2019