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Neonatal features of the Prader-Willi syndrome; the case for making the diagnosis during the first week of life
- Source :
- Journal of Clinical Research in Pediatric Endocrinology
- Publication Year :
- 2018
- Publisher :
- Galenos Publishing, 2018.
-
Abstract
- Objective: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. Methods: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. Results: Ninety patients (54 male-36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight 28 days: 1-12 months in seven; and 3.75-10.5 years in five. Typical PWS features in these 12 infants included hypotonia (100%), feeding difficulties (75%), cryptorchidism (83% males) and reduced FM (66%). Causes other than PWS including neuromuscular disease were considered in nine patients. Conclusion: Neonatal hypotonia, reduced FM, feeding difficulties and cryptorchidism should immediately suggest PWS, yet late diagnosis continues in some cases. Awareness of the typical features of PWS in newborn units is required to allow prompt detection even in the presence of confounding factors such as prematurity.
- Subjects :
- 0301 basic medicine
nasogastric feeding
Male
Pediatrics
medicine.medical_specialty
congenital, hereditary, and neonatal diseases and abnormalities
Neuromuscular disease
Endocrinology, Diabetes and Metabolism
030105 genetics & heredity
03 medical and health sciences
Endocrinology
Case records
Pregnancy
medicine
Humans
hypotonia
Isodisomy
business.industry
Confounding
Infant, Newborn
nutritional and metabolic diseases
medicine.disease
Hypotonia
nervous system diseases
Neonatal hypotonia
Late diagnosis
Pediatrics, Perinatology and Child Health
Fetal movement
Original Article
Female
medicine.symptom
Prader-Willi syndrome
business
fetal movement
Subjects
Details
- Language :
- English
- ISSN :
- 13085735
- Database :
- OpenAIRE
- Journal :
- Journal of Clinical Research in Pediatric Endocrinology
- Accession number :
- edsair.doi.dedup.....233246bcf3ed8135ef70a55aaf881797