M E D I C U S - Shoqata e Mjekëve Shqiptarë të Maqedonisë-Hipokrati

the common features in both cases are: growth restriction, congenital heart defect, low-set
ears, short neck, and retrognatia. The cases presented here represent a reminder for the
clinicians in terms of appropriate prenatal diagnosis as well as increased awareness of
this condition and adequate treatment in the early neonatal period.
Key words: trisomy 18, clinical characteristics, prenatal diagnosis
Medicus 2009, Vol. XI (1):
INTRODUCTION
Trisomy 18 is the second most common autosomal trisomy in newborns with an
estimated birth prevalence of 1 in 3000 to 1 in 8000 (1, 2, 3). Congenital heart and central
nervous system defects are frequently present and are common underlying causes of
death in these patients (2, 3, 4). The spectrum of associated anomalies includes:
horseshoe kidneys, esophageal atresia, clenched hands, rocker bottom feet, low set or
malformed ears, facial clefts, as well as growth retardation (3, 5). The life span of the
majority of patients is less than 1 year (6); the median survival age varies between 4
days 5 and 5 months 4 with only 1% of the children that survive until their 10th birthday
(5). Advances in ultrasound prenatal diagnosis have greatly improved the possibility for
early detection of congenital anomalies, leading to improvement of perinatal care and
giving the opportunity for pregnancy termination in the cases of lethal disorders (7, 8, 9).
In this paper we describe two cases of trisomy 18 from our clinical practice with
an emphasis on their clinical characteristics and we give a brief overview on the
possibilities for effective prenatal prevention.
CASE 1
The patient was delivered at term (40 wg), after an uneventful pregnancy
terminated by cesarean section, as a first child in a family of young parents. The mother,
being a primagravida at the age of 27 years was not advised to a prenatal screening for
fetal aneuploidies. The child was born severely growth retarded; the birth weight was
2500 g, the birth length 50 cm and the head circumference 33 cm. A moderate perinatal
asphyxia was present at birth (Apgar score 4/8). After initial stabilization he was referred
to our Department at the age of 2 days for further diagnostic workup and treatment under
a developed clinical picture of respiratory distress. At admission, the child was cyanotic,
dehydrated, with pronounced tachycardia, tachypnea, grunting and costal retractions,
systolic murmur of 2/6 o was present as well as hepatomegaly of 3 cm. The dysmorphic
profile included: dry and chapped, ichtyosiform skin with hirsutism distributed on the
forehead, back and extremities, microcephaly, widely opened posterior fontanel, antimongoloid
set eyes and eyebrows, bulging eye bulbs with ptosis and edema of the
palpebrae, upturned nose with a sharp root and a sharp nasal ridge, microretrognathia,
high arched palate, gingival hypertrophy, short philtrum, low-set ears, soft auriculae,
malformed and posterior rotated right ear, short and webbed neck (Figure 1), widely
spaced nipples, edema of the hands and feet with joint contractures (arthrogryposis),
underdeveloped nails, clenched short hands with bilateral simian crease, short fingers,