Holoprosencephaly–Polydactyly (HPS) or Pseudotrisomy 13 syndrome are names conferred
to clinically categorize patients whose phenotype is congruent with Trisomy 13 in the context …

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 …

Patients with a combination of holoprosencephaly and polydactyly, but with apparently
normal chromosomes, may be clinically diagnosed with holoprosencephaly–polydactyly …

Abstract Analysis of familial cases of the so called “holoprosencephaly‐polydactyly”(“
pseudotrisomy 13”) syndrome shows that neither holoprosencephaly, nor polydactyly are …

Pseudotrisomy 13 syndrome is characterised by holoprosencephaly with or without
polydactyly, but with a normal karyotype. The genetic cause of this syndrome remains …

Holoprosencephaly (HPE) is the most common developmental defect affecting the forebrain
and midface in humans. The aetiology of HPE is highly heterogeneous and includes both …

Chromosome aberrations, mendelian mutations and exogenous agents can cause
holoprosencephaly. Therefore, etiologic evaluation of holoprosencephaly is necessary for …

The combination of holoprosencephaly, postaxial polydactyly, and normal karyotype has
been termed pseudotrisomy 13 syndrome. Here, we report the prenatal diagnosis of …

Trisomy of the short arm of chromosome 4 is a well‐known syndrome, and several
observations have been made in the last 30 years. Herein, we report a new observation of …

Holoprosencephaly (HPE) is the most common structural malformation of the developing
forebrain. At birth, nearly 50% of children with HPE have cytogenetic anomalies …