Deletion of the long arm of chromosome 4 results in two distinctive syndromes depending on the location of the deleted material. Terminal deletions are associated with postnatal macrocephaly and the following facial features: dysplastic ears, short nose with a flat nasal bridge, midface hypoplasia, cleft lip and/or palate, and micrognathia. Additional manifestations include skeletal anomalies, cardiac, renal, gastrointestinal, and genital anomalies. Seizures may be evident, and life span is usually very short. Ophthalmic features include hypertelorism, epicanthus, laterally displaced inner canthi, up- or downward slanting of the palpebral fissures, and features of Williams syndrome including stellate irides.166,232,352
The manifestations of an interstitial deletion of the long arm of chromosome 4 are less well defined. The features include dysplastic ears, micrognathia, and skeletal anomalies. Reported ophthalmic features include hypertelorism, epicanthus, downward slanting of the palpebral fissures, strabismus, prominent supraorbital ridges, and Rieger's anomaly.22,54,203,232
Was this article helpful?