Schaaf-Yang syndrome

case report

Abstract

INTRODUCTION: Schaaf-Yang Syndrome (SYS) is considered a rare genetic syndrome caused by truncation of pathogenic variants in the paternal allele of the MAGEL2 gene expressed maternally and paternally printed, located in the critical region of Prader-Willi 15q11-15q13. OBJECTIVE: To describe the clinical manifestations of Schaaf-Yang Syndrome. METHODS: Case report. CASE REPORT: Mother, 29 years old, brown, G3 P2 (C) A1, denies smoking, denies alcoholism, denies drug use, denies allergies, as comorbidities refer to Epilepsy since childhood and Depression, using 200mg Carbamazepine once a day and Sertraline 50mg 1x daily. Third pregnancy after 4 months of the second, good evolution, first trimester ultrasound, with no visible changes in first trimester morphology and with normal nuchal translucency. In the morphological ultrasound of the second trimester, club feet, clenched hands and frontal bone jostling are seen (Sinal do Limão). Pregnancy evolved without further complications for up to 38 weeks, without other important ultrasound findings, including with normal Doppler ultrasound and also karyotyping performed with material obtained by amniocentesis with normal results. Live cesarean section, female, APGAR 07 in the first minute and 08 in the fifth minute, weight of 3,015 g, length of 47 cm, head circumference of 36 cm and normal foot test. As visible changes, she had club feet, clenched hands, hypotonia, lethargy, difficulty in swallowing, difficulty in breastfeeding and inverted mouth (thin upper lip and curved down corners). Exoma Result for Schaaf-Yang Syndrome. CONCLUSION: Schaaf-Yang Syndrome is a neurodevelopmental disorder that overlaps with Prader-Willi Syndrome (SPW) and the main clinical signs are: developmental delay, intellectual disability, hypotonia, eating difficulties and autism spectrum disorder. Therefore, one should be suspicious of these signs and advise to perform appropriate examinations with meticulous clinical evaluations by specialists in genetics. Once diagnosed, the endocrinological test should be considered. The ultrasound examination in the second trimester was able to identify the malformations but the patient should have been referred for prenatal genetic evaluation due to previous history. Only 30 studies were found in the Pubmed database that report the syndrome.