Deletions of the long arm of chromosome 4 (4q) are rare, with an estimated incidence of roughly 1 in 10,000 live births. 1 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.
|Journal||Journal of Plastic, Reconstructive and Aesthetic Surgery|
|State||Published - Apr 2012|
- 4q deletion