Wiedemann–Rautenstrauch syndrome prenatal diagnosis

CASE A 21-year-old woman in her second pregnancy was referred to our Maternal-Fetal Unit for abnormal fetal growth detected during a 23-week routine scan. Her husband was 29 years old and this baby was his first. There was neither consanguinity nor any family history of congenital anomalies. Fetal detailed ultrasound findings (Accuvix V10, Medison, Seoul, Korea) were cranial suture diastasis (Figure 1a), nasal bone hypoplasia (Figure 1b), cranial bones and clavicles hypomineralization (Figures 1b and c), maxillary hypoplasia (Figure 1d), cerebellar vermis hypoplasia (Figure 2a) and low-set ears (Figure 2b). With this prenatal information the first diagnosis proposal was cleidocranial dysplasia. Karyotype analysis was suggested but impossible to realize due to administrative red tape. In prenatal ultrasound follow-up an intrauterine growth restriction was identified. At 32 weeks new central nervous system findings were detected: hypoechoic frontal cortex images suggestive of bilateral porencephalic cysts (Figure 2c) and first cervical vertebra dysraphism with dura mater bulging (Figure 2d). At 35 weeks intrauterine growth restriction and Doppler evaluation defined cesarean section. A male baby of 1410 g and 44 cm height was born. Apgar score was 8 at 1min and 9 at 5min. Minor respiratory distress was solved with cephalic oxygen chamber. Anthropometric measurements were cephalic perimeter 29 cm (Po5), 44 cm height (P 10 to 25), inner canthal distance 1.6 cm (P 3), interpupillary distance 3 cm (Po3), outer canthal distance 4.6 cm (P 3 to 50), palpebral fissures 1.2 cm (Po3), labial intercommissure 1.8 cm (Po3), total ear length 2.4 cm (Po3), total hand length 6 cm (P 50 to 97) and middle finger length 2.5 cm (P 50 to 97); lower segment length 19.6 cm, upper segment length 24.4 cm and upper/lower segments ratio 1.24 (normal range 1.65 to 1.70); feet length 7 cm (P 50 to 75) and penis length 1.6 cm (Po3). Physical examination showed pseudohydrocephalus, hypotricosis, scalp collateral venous system visible, triangular face (Figure 3a), widened fontanelles, biparietal prominence, low-set ears, upper oblique palpebral fissure, depressed nasal bridge with beaked nose profile (Figure 3b). Labial commissures had a downward orientation; two central natal teeth were visible, micrognathia and thin neck were evident. The cardiac evaluation demonstrated a systolic murmur grade II/IV. External genitalia agreed with male condition except for bilateral criptorquidia. Limbs presented general hypotrophy and with imitated articular movements (Figure 3c). Hands and feet were longer than normal (Figure 3d and e). Reduced subcutaneous fat was evident. Neurological examination reported general hypertonic condition and poor suction. Echocardiogram showed persistent ductus arteriosus 2.4 mm with mild pulmonary hypertension, without cardiac structural anomalies. Transfontanellar scan demonstrated hypoechoic collection associated with bilateral frontal porencephalic cysts and a wider cisterna magna and a dysraphism of the first cervical vertebra with dura mater bulging. Axial computerized tomography reported hypodense lines suggestive of bilateral frontal porencephalic cysts. All these findings permite to conclude that this case correspond to the Wiedemann–Rautenstrauch syndrome (WRS; online mendelian inheritance in man: 264090) or neonatal progeroid syndrome. Neonatal respiratory distress was successfully resolved after 24 h. Indirect hiperbilirrubinemia was treated with phototherapy. The baby was discharged once adecuate suction level was reached 40 days after birth weighing 1925 g. At 3 weeks buttocks upper fat was evident.