Abstract
Facial dysotosis can be divided into two types: mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). MFDs typically have no limbs defects, while AFDs are associated with limb abnormalities. Treacher Collins syndrome (TCS) is the most common MFD, while Nager syndrome is the most common AFD. Prenatal ultrasound (US) can diagnose both MFDs and AFDs. US findings in Treacher Collins syndrome include micrognathia, transverse facial cleft, and low set ears. In Nager syndrome, US findings include severe mandibular hypoplasia and retrognathia (malformed ears, mesomelic shortening and limb abnormalities that include radial ray defects, and oligodactyly). Both upper and lower limbs can be affected.
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