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History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Clinical summary The proband was the first-born child of healthy, unrelated parents. Their first pregnancy was diagnosed as missed abortion at 14 weeks of gestation and the rest of the family history was unremarkable. The girl was delivered at term by Cesarean section (because of breech position) after an uneventful pregnancy. Her weight at birth was 2 760 g, length 55 cm, and head circumference 34 cm. Except for hypotonia, there were no problems in the neonatal period. On physical examination, craniofacial dysmorphic features were noted: long skull, narrow bifrontal diameter, short palpebral fissures with thelecanthus, and a broad, flat nasal bridge. Moreover, unilateral coloboma of the iris, retina, and choroid was diagnosed.