A 20-year-old mother with unremarkable history is referred at 24 weeks for an abnormal finding in an outside institution. The finding(s) is(are) illustrated here:

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In view of the findings a karyotype was obtained. The karyotype is normal.

Gestational age had been previously confirmed during the first trimester by crown-rump length measurement at 13 weeks of gestation. Nuchal translucency was normal but maternal risk for trisomy 21 was not made. The biometry was found to be normal for 24-week gestation including the intra-orbital diameter and the external orbital diameter. Nevertheless, nasal hypoplasia with reduced naso-frontal angle was noted. This facial finding was confirmed using a Kretz Technik Voluson ultrasound machine. As a chromosomal abnormality could not be excluded, an amniocentesis was performed (46 XX). Discussions with the geneticists and neonatologists concluded that Maxillo-Nasal dysplasia; Binder syndrome was the most likely diagnosis but evidently, we could not confidently exclude another underlying syndrome. Nevertheless, 4p deletion (Wolf-Hirschhorn syndrome) was eliminated. The parents decided to continue this pregnancy. At 32 weeks of gestation, a brain RMI was done and the brain was normal. At 37 weeks of gestation, the baby born normally. The congenital abnormalities found were facial dysmorphism, flat mid-face. An intact arched palate was present without atresia of choana. There was no other malformation and no other pathology. Radiography confirmed the anomalies with hypotrophy of the bone of the nose. However, a hypotrophy of the distal phalanx was noted (brachytelephalangy) but there was not epiphyseal punctation. This young baby has a Binder anomaly.