Prenatal sonographic findings in a case of Varadi-Papp syndrome

We aim to describe a case with oral-facial-digital syndrome type VI (OFDS VI) or Varadi-Papp syndrome where the only prenatal findings were cleft lip and palate and a primum type atrial septal defect (ASD).

A 24-year-old pregnant woman, gravida 1 para 0, attended the prenatal clinic for a routine visit at 16 weeks of gestation. Her medical and family history was unremarkable. There was no history of consanguinity, drug or teratogen exposure. Her triple screening test and other routine biochemical and haematological blood tests did not reveal any abnormal results. During routine prenatal sonographic examination at the 16th gestational week, cleft lip and palate including secondary palate on the right side of the face was detected and ASD was suspected.

After delivery, prenatally diagnosed cleft lip and palate and primum ASD were confirmed. Postnatally, minimal micrognathia, posteriorly rotated low-set ears, minimal hypertelorism, epicanthal folds, nystagmus, esotropia, broad nasal tip, intraoral frenula and lobed tongue, shawl scrotum and duplicated nail of the index fingers of both hands were also observed. Radiological examination showed partial agenesis of the corpus callosum and partially duplicated terminal phalanx of the index fingers. A diagnosis of Varadi-Papp syndrome was formulated. At one year of age, there was short stature and delayed mental and motor development.

Understanding the limitations of prenatal ultrasound is very important for the genetic counselling of prospective parents, since major ultrasound findings can be associated with other minor or undetectable features.