Holoprosencephaly-Associated Hyperkinesia

Alobar holoprosencephaly associated with cebocephaly and craniosynostosis.

Cebocephaly is a very rare congenital midline facial anomaly characterized by a blind-ended single nostril and ocular hypotelorism, and is usually combined with alobar holoprosencephaly. We report here a case of alobar holoprosencephaly with cebocephaly and craniosynostosis. Chromosomal analysis revealed normal karyotyping. The facial dysmorphism was characterized by the single nostril, hypotel...

Holoprosencephaly

Holoprosencephaly

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day of gestation and affecting both the forebrain and the face. It is estimated to occur in 1/16,000 live births and 1/250 conceptuses. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. Another milder subtype...

Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies.

SUMMARY HPE is a congenital brain malformation characterized by failure of the prosencephalon to divide into 2 hemispheres. We have identified 7 patients who have a mild subtype of HPE in which the midline fusion was restricted to the septal region or preoptic region of the telencephalon. This subtype, which we call septopreoptic HPE, falls in the spectrum of lobar HPE, but lacks significant fr...

Prenatal MRI Findings of Polycystic Kidney Disease Associated with Holoprosencephaly

Holoprosencephaly (HPE) and polycystic kidney disease (PKD) are genetically heterogeneous anomalies which can make up part of various syndromes or chromosomal anomalies. Due to the rapid lethality prognosis, early and precise prenatal diagnosis would be of great value. This case report describes extensive PKD involvement, already present in utero, in a patient with HPE and subdural effusion vis...