1.
Int J Pediatr Otorhinolaryngol
; 77(9): 1601-5, 2013 Sep.
Article
in English
| MEDLINE
| ID: mdl-23815883
ABSTRACT
Jacobsen syndrome is an uncommon but well-known contiguous gene syndrome caused by partial deletion involving the long arm of chromosome 11. Most common features include: psychomotor impairment, facial dysmorphism, and thrombocytopenia. Cleft palate has been rarely reported. A case of Jacobsen syndrome confirmed by cytogenomic analysis is presented with review of the literature. Main clinical features were phonological disorder, submucous cleft palate (SMCP) and velopharyngeal insufficiency (VPI). VPI was corrected surgically according to findings of videonasopharyngoscopy and videofluoroscopy. It is concluded that clinicians should consider that VPI associated with SMCP may be the main manifestations of a chromosomal syndrome.
Subject(s)
Articulation Disorders/diagnosis , Cleft Palate/diagnosis , Jacobsen Distal 11q Deletion Syndrome/diagnosis , Velopharyngeal Insufficiency/diagnosis , Articulation Disorders/therapy , Child , Cineradiography/methods , Cleft Palate/surgery , Diagnosis, Differential , Female , Follow-Up Studies , Humans , Jacobsen Distal 11q Deletion Syndrome/therapy , Laryngoscopy/methods , Rare Diseases , Velopharyngeal Insufficiency/diagnostic imaging , Velopharyngeal Insufficiency/surgery
2.
Ann Allergy Asthma Immunol
; 90(3): 360; author reply 360-1, 2003 Mar.
Article
in English
| MEDLINE
| ID: mdl-12669903