Holoprosencephaly-polydactyly/pseudotrisomy 13:  a presentation of two new cases and a review of the literature.
Patients with a combination of holoprosencephaly and polydactyly, but with apparently normal chromosomes, may be clinically diagnosed with holoprosencephaly-polydactyly syndrome (HPS), also termed pseudotrisomy 13. However, the criteria for HPS have been controversial since the advent of the diagnostic term, and a clear understanding of the condition lacks definitive delineation. We review the historical and current perspectives on the condition and analyze findings in 40 patients with apparent HPS, including cases from the literature and two previously unreported patients. Overall, our analysis suggests previously unrecognized trends in patients diagnosed with HPS. Specifically, there appears to be a higher prevalence of visceral anomalies, most significantly cardiac and genitourinary, but also with increased gastrointestinal, pulmonary, adrenal, skeletal, and renal abnormalities, in patients with HPS. Although these visceral anomalies may not be essential for the identification of HPS, clinicians should be aware of the presence of such characteristics in these patients to optimize management and help establish etiologies.
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine/Reproductive Genetics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, North Carolina Department of Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA Humangenetik, Charité Campus Virchow, Berlin, Germany.
Sophia M
SM
Bous
Benjamin D
BD
Solomon
Luitgard
L
Graul-Neumann
Heidemarie
H
Neitzel
Emily E
EE
Hardisty
Maximilian
M
Muenke
D002882:Chromosomes, Human, Pair 13; D005320:Fetal Macrosomia / Q000150:complications*; D005333:Fetus / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000150:complications*; D016142:Holoprosencephaly / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017689:Polydactyly / Q000150:complications*; D014314:Trisomy