Images in Medicine - Fryns Syndrome

A 17-year-old (G₁P_{) Australian aboriginal mother delivered a male neonate weighing 2400 grams following a spontaneous vaginal delivery at term. Antenatal scan at 29 weeks' gestation had shown congenital diaphragmatic hernia (CDH) along with multiple anomalies suggestive of Fryns syndrome (Figure 1, 2). There was no polyhydramnios. Karyotyping was normal and alpha-foetoprotein was in normal range. The neonate was electively intubated in view of CDH (Apgar scores: 3 and 5 at 1 and 5 minutes respectively). Clinical examination revealed multiple congenital anomalies associated with right-sided CDH suggestive of Fryns syndrome. They included coarse facial features, hypertelorism, corneal clouding, broad nasal root, absent malformed right ear, rudimentary left ear with absent external auditory canal, very short neck, and a scaphoid abdomen due to the large CDH with herniation of liver in the thoracic cavity. The limb abnormalities included absent right radius, clinodactly, hypoplasia of the thumb, and long slender fingers, simian crease on right hand, and increased space between first and second toes. There were 11 ribs bilaterally and hemivertebrae were noted at C6 and T1 level. Echocardiography revealed large ventricular septal defect, atrial septal defect and left pulmonary artery could not be visualised. Head ultrasound revealed dilated lateral ventricles whereas renal scan was normal. Death occurred at 18 hours of age after withdrawal of life support following failure of maximal medical therapy for pulmonary hypoplasia with severe persistent pulmonary hypertension of the newborn. Withdrawal of life support was delayed mainly to allow appropriate counselling of the mother. Autopsy was not done as per the wish of the mother. There was no history of similar problems in the family.}

Keywords
Osteochondroma, chondroblastoma, chondral tumours, cartilage germ cells