Monosomy of the short arm of chromosome 9 causes craniofacial anomalies including trigonocephaly, a flattened nasal bridge, short nose, anteverted nares, long philtrum, small mouth, and micrognathia; the ears are low set with small lobes and hypoplastic helices. The internipple distance is increased, the metacarpals short, and the nails dysplastic. Genital hypoplasia occurs in both males and females. Ophthalmic features include up- and downward slanting of the palpebral fissures, epicanthus, hypertelorism, strabismus, blepharoptosis, exophthalmos, and congenital glaucoma.2,75,125,246,281,297,369,403,404
Was this article helpful?