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Pseudotrisomy 13 syndrome

Known as: Holoprosencephaly polydactyly syndrome, Holoprosencephaly-Polydactyly Syndrome, Pseudo trisomy 13 syndrome 
A rare syndrome likely inherited in an autosomal recessive pattern. It is characterized by holoprosencephaly, polydactyly, phenotypic features… 
National Institutes of Health

Related topics

Related topics

31 relations
2-3 toe cutaneous syndactylyAgenesis of corpus callosumAnus, ImperforateAortic coarctation

Broader (6)

Chromosomes, Human, Pair 13Congenital Hand DeformitiesFetal MacrosomiaHoloprosencephaly

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma.
We report a case of a female baby born at 34 weeks of gestation. Birth weight was 1760 g (10th-25th centile), length 41cm (10th… 
2012
2012
Holoprosencephaly-Polydactyly (Pseudotrisomy 13) Syndrome: Case Report and Diagnostic Criteria
We report a new case of a fetus with holoprosencephaly-polydactyly syndrome, also known as pseudo-trisomy 13 syndrome, and no… 
2012
2012
Extremely Rare Syndrome: Pseudotrisomy 13
Pseudotrisomy 13 syndrome is extremely rare, characterized by holoprosoncephaly, microcephaly, anophthalmy, single athresic nasi… 
2006
2006
Pseudotrisomy 13 syndrome: a case with left ventricular hypoplasia and duodenal stenosis
We report a case of a female child born at 32 weeks of gestation. Birth weight was 1200 g (<3rd centile), length 40 cm (10th–50th… 
2000
2000
Pseudotrisomy 13 syndrome in siblings.
We describe a brother and sister who both had holoprosencephaly, polydactyly, cardiac lesions and a normal karyotype. The parents… 
Review
1994
Review
1994
Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly.
We report on a baby with holoprosencephaly, median cleft lip, cardiac and genital anomalies, normal upper limbs, and a 46,XX… 
1992
1992
Pseudotrisomy 13 syndrome.
1992
1992
Dysmorphology report holoprosencephaly-polydactyly syndrome: affected brother and sister with a wide spectrum of anomalies.
1990
1990
Pseudotrisomy 13 syndrome.
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