Holoprosencephaly

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.

Overlapping fingers

A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.


Total: 1

                       


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PMID (PMCID)
29278735
 FEMALE Infant
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS.
Eur J Med Genet. 2018;61(5):257-261.
With only one previously described homozygous RAD51C variant to date, our findings expand the phenotypic spectrum of FANCO and suggest it should be part of the antenatal differential diagnosis for trisomy 13 and 18, due to the presence of atypical findings such as cleft lip and palate, holoprosencephaly, growth restriction and overlapping fingers.