Abstract Ref Number = APCP829
A-2-MONTH-OLD GIRL WITH NOONAN SYNDROME & DUODENAL ATRESIA
Michelle Husin,Clarissa Theodora,Sumiartini Ni Made,Bikin Suryawan I Wayan
Rumah Sakit Tingkat II Udayana Denpasar
Background : Noonan syndrome (NS) is an autosomal dominant disorder with main features of typical facial characteristics, short stature, and congenital heart disease. Diagnosis can be made based on clinical features, confirmation can be made by molecular genetic testing. In this patient, typical facial characteristics and short stature was found. Chromosomal testing was 46 XX (to differentiate with Turner syndrome).
Case Presentation Summary : A-2-month-old girl was found with the clinical feature of NS. Patient was born on a caesarean delivery, mature gestation, polyhydramnios. No family history of the disorder was found. She had a low birth weight, small for gestational age, and a duodenal atresia. Operation for the duodenal atresia was done soon after the birth. She had the NS facial characteristics such as large head compared to face, epicanthal fold, telecanthus, thickly hooded prominent eyes, downward slanting palpebral fissures, low nasal bridge, wide based depressed nose with bulbous, low set ears, low hairline, webbed neck, and talipes varus. Based on the NS growth chart her height was below p3. Chromosomal testing was done at the age of 1 month with the result of 46 XX. At her age, she can smile spontaneously but has not been able to hold head.
Learning Points/Discussion : This patient facial characteristic were match with NS and has short stature according to the NS growth chart. Developmental delay may potentially be due to hypotonia. Early intervention and follow up are important to reach their potential.
Keywords: Noonan syndrome congenital specific growth chart