Holoprosencephaly–polydactyly/pseudotrisomy 13
| Autor: | Sophia M. Bous, Emily Hardisty, Benjamin D. Solomon, Heidemarie Neitzel, Maximilian Muenke, Luitgard Graul-Neumann |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Trisomy Article Fetal Macrosomia Pathology and Forensic Medicine Fetus Holoprosencephaly medicine Humans In patient Genetics (clinical) Chromosomes Human Pair 13 integumentary system Polydactyly Genitourinary system business.industry Infant Newborn Infant General Medicine medicine.disease eye diseases Surgery Renal abnormalities Pediatrics Perinatology and Child Health Etiology Anatomy Presentation (obstetrics) business Hand Deformities Congenital |
| Zdroj: | Clinical Dysmorphology. 21:183-190 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0b013e3283551fd0 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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