New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome.
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked disorder of overgrowth associated with multiple congenital malformations. We report on a child with typical facial and visceral manifestations of SGBS. In addition there were complex airway anomalies, swallow difficulties and associated bronchiectasis that have not previously been described. The case highlights the importance of comprehensive airway and swallow assessment in children with this overgrowth syndrome.
Glamuzina
Emma
E
Northern Regional Genetic Services, Starship Children's Hospital, Building 30, Private Bag 92024, Grafton, Auckland 1010, New Zealand.
Aftimos
Salim
S
Keesing
Melissa
M
Mahadevan
Murali
M
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics; D001987:Bronchiectasis / Q000175:diagnosis* / Q000235:genetics; D003680:Deglutition Disorders / Q000175:diagnosis* / Q000235:genetics; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked; D005877:Gigantism / Q000175:diagnosis / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D035583:Rare Diseases; D018570:Risk Assessment