· Trisomy 13- The most important sonographic findings are in the head, face, heart and hands and include holoprosencephaly, ACC, SWS, hydrocephalus, anophthalmia, low set ears, cleft lip/palate, VSD, ASD, PDA, pulmonary stenosis, mitral/aortic atresia, polydactyly, omphalocele and renal cystic dysplasia.
· Goltz's syndrome- The syndrome is inherited in an Xlinked dominant manner and may be associated with microphthalmia, unilateral anophthalmia, single umbilical artery, syndactyly, adactyly polydactyly, microcephaly, foot deformities and renal anomalies.
· Fraser's syndrome- (Cryptophthalmos—syndactyly syndrome) The syndrome is associated with various ocular abnormalities (absence of lens, abnormal size, absence of orbits), microcephaly, syndactyly, renal dysplasia and renal agenesis.
· Goldenhar's syndrome- This is usually a sporadic condition, familial cases are rare. Sonographic features include anophthalmia, low set ears, vertebral anomalies, intracranial anomalies, intracranial lipomas/ dermoid, encephalocele, hydrocephalus, pulmonary agenesis, cleft palate and absence of the portal vein.
· • Lenz microphthalmia syndrome - This is an X-linked recessive condition. Anophthalmia/microphthalmia, deformed ears, microcephaly, cleft lip/palate, webbed neck, renal anomalies, CHD, clindactyly, camptodactyly and syndactyly.
Waardenburg's anophthalmia syndrome- This syndrome is inherited in an autosomal recessive manner. It has not been reported antenatally. Expected features: anophthalmia/ microphthalmos, syndactyly, camptodactyly and clubfeet.
Back to Fetal Face and Neck