The 4p- syndrome. A clinically recognizable chromosomal deletion syndrome.

Abstract

Partial deletion of the short arm of chromosome 4 results in a clinically recognizable and distinct syndrome. Common features include severe growth deficiency of prenatal onset; profound mental deficiency; multiple craniofacial anomalies such as ocular hypertelorism, a prominent glabella, preauricular tags or pits, a broad, beaked nose; a short philtrum with a downturned mouth, a cleft lip or palate or both, and micrognathia; cardiac defects; midline scalp defects; genital anomalies; and dermatoglyphic abnormalities. The natural history of this syndrome is characterized by a profound deficiency in mental development and somatic growth and by multiple secondary complications. Because of the severity of the mental defect, we recommend that the parents be offered the possibility of the limitation of all medical means for the prolongation of life of the patient when the diagnosis is established in early infancy.