Holoprosencephaly:  Images



Images for 4 patients are presented below.  Patients A, B, and C are alobar variants of holoprosencephaly with Patient B and Patient C due to Trisomy 13 at different gestational ages.  Patient D represents semi-lobar holoprosencephaly at 27 6/7 weeks.


Holoprosencephaly elongated thalamusCentral nervous system Holoprosencephaly elongated thalamus

Above.  Patient A.  Cerebellar view 34 1/7 weeks gestation.  Note elongated thalamus.


Cerebellar view of Holoprosencephaly at 34 1/7 weeks gestationfetal head circumference is at 7th percentile

Above.  Patient A.  Fetal head circumference is at 7th percentile.  Elongated thalamus.  No cavum septi pellucidi (CSP) seen.


flat profile of micrognathia in fetal central nervous systemPatient A. Holoprosencephaly Profile

Above.  Patient A.  Holoprosencephaly Profile.


Diagnosis: holoprosencephaly, alobar variantno infant interhemispheric fissure or falx

Above.  Patient A.  Note monoventricle, fused thalamus; no infant interhemispheric fissure or falx.  Diagnosis:  holoprosencephaly, alobar variant.


Possible fetal CHD and Monoventriclelikely monoventricle and fused thalamus

Above.  Patient B.  19 6/7 weeks gestation.  Abnormal profile, likely monoventricle and fused thalamus, possible congenital heart defect.


Infant with club footInfant with abnormal lower extremities

Above.  Patient B.  Infant with abnormal lower extremities.


polydactylyAbnormal fetal hand with postaxial polydactyly

Above.  Patient B.  Abnormal hand with postaxial polydactyly.


Fetal Diagnosis: Trisomy 13 with alobar holoprosencephalyCoronal view of fetal monoventricle and fused thalamus

Above.  Patient B.  Monoventricle, fused thalamus, with multiple fetal markers for aneuploidy.  Diagnosis:  Trisomy 13 with alobar holoprosencephaly.


Axial View of Fetal brachycephalyfetal holoprosencephaly Patient C. 17 5/7 weeks gestation

Above.  Patient C.  17 5/7 weeks gestation.  Brachycephaly, elongated thalamus, no CSP.


Elongation of thalamus, monoventricle and absence of CSPElongated thalamus

Above.  Patient C.  Elongation of thalamus, monoventricle, and absence of CSP.


Sagittal view of holoprosencephalymonoventricle in fetal central nervous system

Above.  Patient C.  Sagittal view.  Note monoventricle.


Holoprosencephaly Patient C. Classic view of alobar holoprosencephaly with monoventricleKaryotype: Trisomy 13

Above.  Patient C.  “Classic view,” alobar holoprosencephaly with monoventricle, and fused thalamus.  Karyotype:  Trisomy 13.


Anterior monoventricle, no SCPHoloprosencephaly Patient D: 27 6/7 weeks gestation

Above.  Patient D.  27 6/7 weeks gestation.  Anterior monoventricle, no SCP.


fetal cerebral mantle, partial cleavage, and incomplete thalamus fusionFetal Diagnosis: Semi-lobar Holoprosencephaly

Above.  Patient D.  Monoventricle present but with partial cleavage and rudimentary falx.  Diagnosis:  Semi-lobar Holoprosencephaly.