Prenatally diagnosed Fryns syndrome

Fryns syndrome is a rare condition which characterized by autosomal recessively inherited multiple congenital anomalies. Its incidence rate is 0.7/10,000 births. Our aim was to present the case diagnosed with Fryns syndrome. Twenty-five-year-old foreign woman referred to our clinic with the complaints of pain and water-breaking. It was her first pregnancy and it was found that she did not had her antenatal follow-up regularly. It was seen in the obstetric US of the patient who had one finger sized orifice that amniotic fluid increased and there was advanced level of polyhydramnios with 15 cm single pocket vertical measurement. In the fetal biometric measurements, single fetus with breech presentation consistent with BPD: 34w1d, HC: 34w2d, AC: 29w4d and FL: 33w5d. In the fetal ultrasonographic examination, low ear and micrognathia were observed. In the transverse cross-section examination of abdominal region, collapse was observed on the anterior wall which was not in a normal regular structure. Compared to the previous measurements of AC, it was about 4 weeks smaller. Diaphragmatic hernia was seen where abdominal organs moved towards thorax cavity. In the extremities, there was pes equinovarus deformity in the right foot, and the toe of left foot had advanced flexion deformity. In the hands, the fingers were contracted in the flexion. Since the pains of the patient increased, cesarean section was carried out due to breech presentation. With the c-section, 1450 g – 41 cm baby was delivered, and intubated just after the birth. On the 13th postnatal day, baby has still been followed-up and treated in the newborn intense care unit as being intubated. In the examination carried out after the birth, highly arched palate, hypertelorism, undescended testicle, micro-penis, shortness of hand fingers and hypoplasia in the nails were observed in addition to the prenatal findings. The most significant and classical findings of Fryns syndrome are congenital diaphragmatic hernia, craniofacial dysmorphism, cleft palate and lip, extremity anomalies, nail hypoplasia and various internal variations. It is a syndrome generally with fatal progress. In its differential diagnosis, Pallister-Killian syndrome, trisomy 18, Cornelia de Lange syndrome and isolated diaphragmatic hernia should be considered. Frnys syndrome should be remembered in the differential diagnosis of cases found to have diaphragmatic hernia or extremity anomaly, and additional anomalies that may accompany should be investigated.

Keywords

Prenatal diagnosis, Fryns syndrome.