Atypical Fryns syndrome: clinical, radiological and pathological findings

Fryns syndrome is an autosomal recessive hereditary disease, including abnormal facies, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, and diaphragmatic hernia with pulmonary hypoplasia. The aim of the present report is to increase awareness of Fryns syndrome and its association with rare abnormalities such as cecal duplication cyst, horseshoe kidney and butterfly vertebra. We report a male 20-day-old baby with congenital diaphragmatic hernia (CDH), horseshoe kidney, butterfly vertebra, cleft palate, distal finger hypoplasia, left inguinal hernia, typical facial appearance for Fryns syndrome, and cecal duplication cyst. Fryns syndrome is the one of the most common syndromes associated with congenital diaphragmatic defect (CDH), reported in up to 10% of patients with CDH. Although no eye abnormality was seen in our patient, other findings were similar to the other typical diagnostic findings, with the exception of cecal duplication cyst and some other defects not defined before.