Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia鈥恥nusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but ...
Without being able to assess for the recognizable facial and limb findings of RTS, a clinician who receives this result in a prenatal setting may not know how to counsel the family and would be concerned that the fetus might have a secondary diagnosis that explains the malformations in addition...
CDH is a prominent finding in the Fryns phenotype; facial dysmorphology, distal digital hypoplasia, and cardiac/renal/brain anomalies can also occur. CDH and diaphragmatic eventration are also an occasional component of many other syndromes, including Apert, Killian/Teschler-Nicola (Pallister-Killian)...