Holoprosencephaly-postaxial polydactyly syndrome

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).

Polydactyly

A congenital anomaly characterized by the presence of supernumerary fingers or toes.


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PMID (PMCID)
22432933
 MIXED_SAMPLE Adult
Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria.
Sergi C, Gekas J, Kamnasaran D.
Fetal Pediatr Pathol. 2012;31(5):315-8.
We report a new case of a fetus with holoprosencephaly-polydactyly syndrome, also known as pseudo-trisomy 13 syndrome, and no other apparent abnormalities except for septal agenesis of the left lung.
18773678
 FEMALE Adult
Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance.
Utine GE, Alanay Y, Aktas D, Talim B, Kale G, Tuncbilek E.
Turk J Pediatr. 2008;50(3):287-90.
Holoprosencephaly and polydactyly with or without other findings in chromosomally normal patients should raise the suspicion of pseudo-trisomy 13 syndrome, particularly when parental consanguinity is present.