2012-07-23-16 Fryns syndrome © Fabrice Cuillier www.TheFetus.net
* Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
** Department of Neonatology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion.
*** Department of radiology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion.
This is a 28-year-old woman without relevant past obstetrical history (First pregnancy). The first scan and the triple test were normal (1 mm / 60 mm; 1/2000). At 22 weeks, the sonographer discovered a unilateral right cleft lip. No others malformations were detected.
The patient was referred to our unit at 23 weeks with the following findings:
- Unilateral right cleft lip was confirmed.
- A cleft palate was also suspected
- Ears seemed normal
- Cystic dilatation of the fourth ventricle was present. Vermis seemed hypoplastic. Corpus callosum as well as pericallosus artery was normal.
- 3D sonography analysis of the two hands seemed normal. After birth, the fingers of the baby seemed small.
- 3D sonography of the feet seemed normal.
- Ventricular septal defect with normal atrio-ventricular and ventriculo-arterial concordance.
- Hypotelorism or hypertelorism were absent. We did not remark bilateral cataract.
- Little stomach was noted, with moderate polyhydramnios.
- A micropenis was noted with cryptorchidy.
An amniocentesis was proposed. The karyotype was normal (46 XY). MRI was performed and confirmed moderate vermis hypoplasia (Figure 19-22).
The patient delivered spontaneously at 26 weeks and three days. Immediate intubation was necessary. All anomalies were confirmed. The neonatologist discovered both bilateral cataract and bilateral ears dysplasia. The patient was informed about our suspected diagnosis. Bilateral ventricular dilatation (> 20 mm) appeared with intra-ventricular hemorrhage. Severe hypernatremia and hyperglycemia were noticed. The patient decided to stop reanimation. The baby died at day 8.
The consensus diagnosis with the geneticist was Fryns syndrome without diaphragmatic hernia. Array-based comparative genomic hybridization (Array CGH) study was normal (micro-deletions was not find). The recurrence risk is 25%.
Figure 1-4: Unilateral right cleft lip and cleft palate was also suspected
Figure 5-8: Cystic dilatation of the fourth ventricle with hypoplasia of vermis. Normal cerebellum.
Figure 9, 10: Normal corpus callosum
Figure 11-14: Ventricular septal defect was present with normal atrio-ventricular and ventriculo-arterial concordance
Figure 15-16: Bilateral cataract was not seen.
Figure 17, 18: Slightly small stomach at 25 and 26 weeks
Figure 17, 18: A micropenis was noted with cryptorchidy
Figure 19: 3D sonography analysis of the two hands seemed normal. After birth, the fingers of the baby seemed small.
Figure 20-23: MRI confirmed the hypoplasia of the vermis