• "Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum
• A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma
• Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly
• Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study
• Holoprosencephaly-polydactyly (pseudotrisomy 13) syndrome: case report and diagnostic criteria
• Holoprosencephaly-Polydactyly syndrome: in search of an etiology
• Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature
• Holoprosencephaly, polydactyly and normal chromosomes: pseudo-trisomy 13?
• Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes
• Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes
• Polydactyly, holoprosencephaly, cleft lip and cleft palate are not always what they seem: Case report
• Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis
• Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance
• Pseudo-trisomy 13 syndrome
• Pseudo-trisomy 13 syndrome
• Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia
• Pseudo-trisomy 13 syndrome: report of one case
• Pseudotrisomy 13 and autosomal recessive holoprosencephaly
• Pseudotrisomy 13 syndrome
• Pseudotrisomy 13 syndrome
• Pseudotrisomy 13 syndrome in siblings
• Pseudotrisomy 13 syndrome: a case with left ventricular hypoplasia and duodenal stenosis
• Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes
• Pseudotrisomy 13: clinical findings and genetic implications
• Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management
• Re: Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia
• Syndromes associated with holoprosencephaly