title: Mandibular distraction in the setting of chromosome 4q deletion.
abstract: Deletions of the long arm of chromosome 4 (4q) are rare, with an estimated incidence of roughly 1 in 10,000 live births. Patients present with a constellation of findings, including cardiac malformations, micrognathia in the setting of Pierre Robin sequence, microcephaly, genitourinary anomalies, short stature, anomalies of the small fingers of the hand, moderate or severe learning disability, and/or severe psychomotor retardation(2-4) The dysmorphic features include hypertelorism, a broad nasal bridge, with a short nose and anteverted nares, a long philtrum, a thin upper lip, and micrognathia. The cardiopulmonary complications, including asphyxia and apnea contribute significantly to morbidity and mortality. The authors describe a patient with 4q deletion syndrome and respiratory difficulty, secondary to Robin sequence. They report the successful use of distraction osteogenesis to address the associated micrognathia and tongue displacement and avoid long-term tracheostomy.
authors.affiliation: Mount Sinai Cleft & Craniofacial Center, Mount Sinai Kravis Children's Hospital, 5 East 98th Street, Box 1259, New York, NY 10029, USA. Peter.taub@mountsinai.org
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Taub
authors.forename: Michael
authors.initials: M
authors.lastname: Wolfeld
authors.forename: Jessica
authors.initials: J
authors.lastname: Cohen-Pfeffer
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Mehta
mesh_terms: D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008844:Micrognathism / Q000601:surgery*; D019857:Osteogenesis, Distraction; D010855:Pierre Robin Syndrome / Q000235:genetics*; D013577:Syndrome