Neonatal Presentation of Prader-Willi Syndrome.
- Author:
Sang Hun BAEK
1
;
So Yoon AHN
;
Se In SUNG
;
Jae Won SHIM
;
Jong Hee HWANG
;
Dong Kyu JIN
;
Won Soon PARK
;
Yun Sil CHANG
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. cys.chang@samsung.com
- Publication Type:Original Article
- Keywords:
Newborn;
Prader-Willi syndrome;
Phenotype;
Diagnosis;
Growth hormone
- MeSH:
Cryptorchidism;
Early Diagnosis;
Feeding Behavior;
Female;
Fetal Movement;
Gestational Age;
Growth Hormone;
Humans;
Infant;
Infant, Newborn;
Infant, Premature;
Intensive Care, Neonatal;
Korea;
Male;
Maternal Age;
Muscle Hypotonia;
Oligohydramnios;
Parturition;
Phenotype;
Polyhydramnios;
Prader-Willi Syndrome;
Pregnancy;
Prognosis;
Retrospective Studies
- From:Korean Journal of Perinatology
2012;23(2):95-100
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
PURPOSE: In Korea, neonatal clinical features and feeding pattern are not reported systematically. So we report the neonatal presentation of Prader-Willi syndrome. METHODS: This is a retrospective study of 14 neonate with Prader-Willi syndrome whose diagnosed in neonatal intensive care unit, Samsung Medical Center between January 1st 1997 and December 30th 2011. RESULTS: The birth characteristics of patients, maternal age was 31.5+/-4.5 years and 5 (35.7%) were primiparous. Oligohydramnios were reported in 2 cases (14.2%), polyhydramnios were reported in 4 cases (28.5%). 5 pregnancies (35.7%) had complained that decreased fetal movements. Mean gestational age were 38.1+/-2.2 weeks and 12 patients (85%) were term infants, one patient (7.1%) was post term infant, the other patient was preterm infants (7.1%). The average weight at birth were 2509.0+/-442.5 grams. All 14 patients (100%) had hypotonia and a weak cry at birth. 9 patients (64.5%) had the characteristic facial dysplasia. In all, nine male patients (100%) had cryptorchidism. All patients had weak sucking power, so they started to eat via nasogastric tube at birth. The mean duration of use nasogastric tube were 3.2+/-2.0 months. The median age of diagnosis were 1.5 months. 7 cases (50%) were diagnosed within one month of life. Median time of starting GH treatment was 2.0 years. The mean interval of from diagnosis to treatment of growth hormone were 2.2+/-2.0 years. CONCLUSION: Early diagnosis of Prader-Willi syndrome is a very important to improve long-term prognosis.
