APROSENCEPHALY-ATELENCEPHALY AND THE APROSENCEPHALY (XK) SYNDROME

The authors report on a postnatally dead, postterm male infant with aprosencephaly and the oculofacial manifestations usually seen in the most severe form of alobar holoprosencephaly - namely cyclopia and absence of derivatives of the frontonasal process; in addition the infant had the radius aplasia field defect bilaterally, a high VSD, mobile cecum, and penile hypospadias with cryptorchidism. The same syndrome was reported recently by Garcia and Duncan; however, in that case the brain defect was designated 'atelencephaly'. Since atelencephaly is a less severe form of aprosencephaly the authors chose to designate the condition in these patients as 'the aprosencephaly (XK) syndrome'. Atelencephaly and aprosencephaly may occur also as a single and sporadic malformation. The cause of the aprosencephaly (XK) syndrome is unknown.