Anomalies of the prosencephalic structures,
atelencephaly and microcephaly in association with congenital heart defects
(ventricular and atrial septal defects, patent ductus arteriosus,
coarctation of the aorta), preaxial limb malformations, eye (cyclopia), and
genital abnormalities. Micrognathia and craniofacial disproportion.
Aprosencephaly Syndrome; Aprosencephaly-Atelencephaly
Syndrome; XK Syndrome; XK-Aprosencephaly Syndrome.
Aprosencephaly is a lethal malformation of the central
Very rare malformation of unknown incidence.
Autosomal recessive inheritance suggested.
Chromosome 13 has been implicated, with suspicion of a deletion of the long
arm of chromosome 13.
Aprosencephaly has been attributed to a
postneurulation encephaloclastic process. Cause of aprosencephaly syndrome
Diagnosis of a severe brain malformation can already be made
ultrasonography. Reported cases describe autopsy finding in fetuses and
postnatally dead infants.
Aprosencephaly is characterized by a midline
oculofacial defect in association with limb and genital anomalies.
Anencephaly has been described. Other findings include congenital heart defects
(ventricular and atrial septal defects, patent ductus arteriosus, coarctation of the
aorta), preaxial limb malformations (humerus-radial fusion, hip dislocation), eye
(cyclopia, hypertelorism), and genital abnormalities. Furthermore, micrognathia and
craniofacial disproportion, high arched palate, and adrenal hypoplasia have also been
Complete evaluation of all systems
is mandatory, especially cardiac and pulmonary. Adrenal function should be
evaluated and corticosteroid supplementation considered, if necessary.
Laboratory reports must include electrolytes, acid-base status, coagulation
profile, renal function, and CBC.
Difficult direct laryngoscopy and
tracheal intubation should be expected. The presence of congenital heart
defects must be considered in the preparation of the anesthetic. Cortisol
supplement may be necessary in the presence of adrenal insufficiency.
Indicated by the complexity of the
associated conditions. Subacute bacterial endocarditis prophylaxis may be required. No
specific known implications with this condition.
Adkins WN, Kaveggia EG: Sporadic case of apparent aprosencephaly. Am J Med Genet