Aprosencephaly‐atelencephaly and the aprosencephaly (XK) syndrome

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  • JOJohn M. Optiz
    John M. Optiz
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Abstract
We 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 [2]; however, in that case the brain defect was designated “atelencephaly.” Since atelencephaly is a less severe form of aprosencephaly we chose to designate the condition in these two 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.

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