Partial deletion of the short arm of chromosome 4 (Wolf's syndrome). Two further cases

Abstract

Two children - one male and one female - are described with partial deletion of short arms of chromosome No. 4 (identified by autoradiography). Both had a very low birthweight, hypertelorism, downward slant of palpebral fissures, stenosis of nasolachrymal ducts, flat and beaked nose, high-arched palate, clinodactyly and underdeveloped dermal ridges. Additional features present in the boy were hypospadias, deafness, scoliosis and multiple anomalies of the eyes consisting of opacity of the cornea, coloboma of the iris, and absence of anterior chamber. The girl also had a hemangioma and an atrial septal defect. Both presented psychomotor and physical retardation, feeding difficulties, repeated episodes of fever, and seizures, progressive microcephaly and delayed bone maturation. The girl died of heart failure at the age of 16 months while the boy, now 23 months old, is alive. The - often difficult - differential diagnosis between Wolf and cri du chat syndrome is dealt with based on published series of cases.