Page 147 - Abstract Book KONIKA 18

Developmental Behavioral & Community Pediatrics

P-DBCP-031
Femoral Facies Syndrome: A Case Report

Fransiska Herintyo, Mei Neni Sitaresmi, Retno Sutomo
Department of Child Health, Faculty of Medicine, Public Health, and Nursing Universitas Gadjah Mada/
Dr. Sardjito Hospital, Yogyakarta, Indonesia
Abstract
Background Femoral facial syndrome (FFS), is a rare condition characterized by a variable degree
of unilateral or bilateral femoral hypoplasia associated with facial anomalies, with a prevalence <
1/1.000.000 cases. This disorder was discovered by Daentt et al in 1975 and is more common in females.
Objective To present FFS case who is unusually accompanying by mild sensory neural hearing loss and
the respond to the interventions. Case We present a three-month-old female infant, born to maternal severe
preeclampsia who visited Growth and Development clinic in Yogyakarta. The patient showed dismorphic
feature including a broad and short nose, thin upper lip, cleft palate, long philtrum, micrognatia, and hypoplasia
left femur. X-ray images showed left femoral hypoplasia and bilateral hip dysplasia. Brain Evoked Response
Auditory revealed bilateral mild sensory neural hearing loss. A multi-disiplinary team assigned to manage
this patient. Physiotherapy and nutritional intervensions had already begun. The orthopaedic surgeon already
installed pavlik harness for the hip dislocation. Palatoplasty will be performed at 18 month of age by plastic
surgery department. Conclusion Since there were no serious complications in this case, problems in feeding
and speech development, limited function arise from small stature and discrepancy in lower limbs should
be anticipated in advance. We considered that life span in this patient is normal.
Keywords: femoral facial syndrome; unilateral femoral dysplasia; mild sensory neural hearing loss;
case report

P-DBCP-032
Important Screening Program in Early Detection Congenital Hypothyroidism:
A Case Report

Mimi Marleni, Mei Neni Sitaresmi, Djauhar Ismail, Retno Sutomo
Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/
Dr. Sardjito General Hospital, Yogyakarta, Indonesia

Abstract
Background Early detection of congenital hypothyroidism greatly influences functional ability and quality
of life. Congenital hypothyroidism 95% asymptomatic. Late detection and intervention will experience
growth and development disorders. Objective To present the case of congenital hypothyroidism with the early
establishment of diagnostic Case A 2-year-old boy presents with congenital hypothyroidism with a history
of HMD grade 3, neonatal jaundice, IVH, NEC, small PDA, cerebral CMV disease, recurrent pneumonia,
and cerebral palsy. Congenital hypothyroidism was diagnosed at 15-days-old. Born by section cesarean due
to indications of fetal distress, and deteriorating maternal condition with carcinoma mammae, asphyxia,
prematurity, very low birth weight, respiratory distress. TSH level at 13-days-old >100 ng/dL (0.72-11.00),
negative FT4 (0.89-2.20), reconfirmed at 15-days-old TSH level >100 ng/dL, FT4 0.46. Levothyroxine
is given at 17-days-old at a dose of 12.5 mcg/24 hours. Thyroid ultrasound normal. Head ultrasound at
4-months-old revealed paraventricular calcification and cerebral atrophy, IgM cytomegalovirus 1.97, IgG
24. Immunizations are complete. Physical examination no facial dysmorphic, normal head circumference,
neurological examination spastic tetraparesis. Good nutritional status. Based on the milestones, Denver II test
and the capute scale, his development is according to his developmental age. Physiotherapy, levothyroxine,
routine monitoring of hypothyroidism, growth and development, family education. Conclusion Screening
for congenital hypothyroidism in neonates in Indonesia has not been implemented nationally, delayed
diagnosis results in impaired growth and motor development, and intellectual disability. Early detection and
intervention through a neonatal screening program prevents disability due to neurodevelopmental disorders
and optimizes its development.
Keywords: congenital hypothyroidism; screening; early detection

KONIKA XVIII Abstract Book 99