Jacobsen syndrome associated with cleft lip: A patient report and review. Issue 2 (March 2015)

• Record Type: Journal Article
• Authors: Kato, Tomoki; Mizuno, Seiji; Kurosawa, Kenji; Suzuki, Satoshi; Niimi, Teruyuki; Natsume, Nagato
• Is Part Of: Journal of oral and maxillofacial surgery, medicine, and pathology. Volume 27:Issue 2(2015)
• Page Start: 236
• Page End: 239
• Publication Date: 2015-03
• Subjects: Mouth -- Surgery -- Periodicals; Face -- Surgery -- Periodicals; Maxilla -- Surgery -- Periodicals; Oral medicine -- Periodicals; Mouth -- Diseases -- Pathogenesis -- Periodicals; Surgery, Oral -- Periodicals; Oral Medicine -- Periodicals; Pathology, Oral -- Periodicals; Face -- Surgery; Maxilla -- Surgery; Mouth -- Diseases -- Pathogenesis; Mouth -- Surgery; Oral medicine; Electronic journals -- Sciences; Electronic journals -- Medicine; Periodicals; 617.522059
• DOI: 10.1016/j.ajoms.2014.01.002
• Languages: English
• ISSNs: 2212-5566

Abstract

<abstract abstract-type="author" id="abs0005"> <title id="sect0005">Abstract</title> <sec> <title id="sect0010">Background</title> <p id="spar0005">Jacobsen syndrome is a rare chromosomal disorder causing multiple physical and mental impairments. This syndrome is due to a partial deletion of the long arm of chromosome 11. The prevalence has been estimated at 1 in 100, 000 births. To date, more than 200 cases have been reported worldwide. Jacobsen syndrome associated with cleft lip is rare. We report the case of a female infant with Jacobsen syndrome who had a cleft lip and alveolus.</p> </sec> <sec> <title id="sect0015">Case</title> <p id="spar0010">The patient was born at 38 weeks' gestation (weight, 2282 g). She had a bilateral cleft lip with thrombocytopenia and an ear ossicle anomaly. Growth disturbance, anemia, spina bifida, pulmonary regurgitation, and limb myotonia became apparent with time. G-banding revealed that the chromosome anomalies were caused by a terminal deletion (partial monosomy; deleted at the long arm of the chromosome [11q24-qter]). All subtelomeric regions were analyzed using fluorescence in situ hybridization analysis. Cheiloplasty was performed under general anesthesia when she was 1 year old and again at 1 year 6 months old, with uneventful postoperative courses. Further follow-up is necessary to monitor her development, including maxillofacial growth.</p> </sec> <sec> <title id="sect0020">Conclusions</title> <p id="spar0015">Jacobsen syndrome is a contiguous gene syndrome causing multiple abnormalities with mental retardation. Patients with this syndrome have various clinical features. Array comparative genomic hybridization was performed, and a literature review about the relation between a gene in a deleted location and clinical signs was conducted. The patient's development will be followed carefully, and specialists in other departments will be consulted about her progress as needed.</p> </sec> </abstract>