Prenatal diagnosis of marshall syndrome by targeted sonography

Because of advances in prenatal sonographic examinations, it is now possible to detect subtle facial dysmorphology in the second trimester. The detection of fetal craniofacial anomalies has resulted in the ability to prenatally diagnose genetic syndromes that might otherwise have gone undetected until birth. Marshall syndrome (MS) is a rare autosomal, dominantly inherited disorder that has a 50% recurrence risk in the offspring of an affected individual. First described by Marshall in 1958 in a multigenerational family with 7 affected individuals, the condition includes ophthalmologic abnormalities (hypertelorism, myopia, and cataracts), midface anomalies (flat or retruded nasal bridge, anteverted nares, and the appearance of large eyes with ocular hypertelorism), sensorineural hearing loss, and anhidrotic ectodermal dysplasia. Other frequent findings include short stature, cleft palate with or without Pierre Robin syndrome, spondyloepiphyseal abnormalities, and calcification of the falx cerebri. Since Marshall's initial publication, only 8 additional families have been described in the English literature, illustrating the rarity of MS. Below we report the prenatal diagnosis of MS based on close assessment of the cranial features.