Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance.
The spondyloepimetaphyseal dysplasias (SEMD) are a group of skeletal dysplasias of variable severity with a heterogeneous genetic aetiology. SEMD with multiple dislocations (Hall type) is a recently identified disorder (OMIM 603546) which is characterized by striking epiphyseal and metaphyseal changes of the long bones and joint laxity with multiple dislocations of the large joints. We report on persistent inspiratory stridor in a child with this type of SEMD in the second reported family with dominant transmission of this disorder. Microlaryngoscopy showed laryngeal stenosis due to failure of abduction of the vocal cords and a tracheostomy was required to provide a satisfactory airway. Since airway compromise has been reported previously in a small series of patients (total of five out of 13 cases so far), the evidence to date supports the association of upper airway obstruction in early childhood with the Hall type of SEMD. We therefore suggest that this is a clinically important diagnostic feature of this disorder.
Park
Soo-Mi
SM
Department of Medical Genetics, Addenbrooke's Hospital NHS Trust, Cambridge, UK. soo-mi.park@addenbrookes.nhs.uk
Hall
Christine M
CM
Gray
Roger
R
Firth
Helen V
HV
D000328:Adult; D000402:Airway Obstruction / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D004204:Joint Dislocations / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics