1/3. Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome.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.- - - - - - - - - - ranking = 1keywords = aprosencephaly (Clic here for more details about this article) |
2/3. Which brain defects accompany cyclopia?We report a fetus with an association of cyclopia without proboscis, aprosencephaly and agnathia. Analysing literature cases and the case presented here we can suggest that: 1) not only alobar holoprosencephaly but also more severe forebrain anomalies can be a brain equivalent of cyclopia; 2) aprosencephaly can be viewed as the earliest known variant of prosencephalic series; and 3) "agnathia-holoprosencephaly" association is etiologically heterogeneous.- - - - - - - - - - ranking = 0.15384615384615keywords = aprosencephaly (Clic here for more details about this article) |
3/3. XK aprosencephaly.We report a baby with aprosencephaly, preaxial limb defect and ambiguous genitalia. This combination of abnormalities have been reported previously and constitute the XK aprosencephaly syndrome.- - - - - - - - - - ranking = 0.46153846153846keywords = aprosencephaly (Clic here for more details about this article) |