Fryns-Soekerman syndrome: Case report and review

Abstract

Fryns-Soekerman syndrome has been described in three previous males. X-linked inheritance appears likely based on only males being affected and minor stigmata present in two of the mothers. Karyotypes in all cases have been 46,XY with no evidence for micro-deletion on high resolution studies. In our case, the pregnancy was complicated by oligohydramnios and left ovarian dermoid cysts. At delivery, the infant was cyanosed and hypotonic and required ventilatory support. The birth weight was 2400 grams (<5th percentile) with a length of 44.5 cm (<5th percentile). He was noted to have severe micrognathia and a cleft palate in keeping with Pierre Robin sequence. At age 3 months, he was found to have a patent ductus arteriosus and on ECG had a Wolff-Parkinson-White type B conduction defect. At age 9 years, because of increasing neurologic problems, an MRI scan of the cranium and spine was done which showed small cerebellum, large cisterna magna and fourth ventricle and two areas of syringomyelia. Imaging studies of the spine showed the marked kyphoscoliosis and high vertebral bodies in relation to the AP diameter and only eleven ribs. Bone age was delayed. Radiographs of the hips showed bilateral coxa vara, shallow acctabula and superolateral subluxation of the femoral heads. On examination at 9 years, occipitofrontal circumference was 51.6 cm (40th percentile) with his weight below the 5th percentile. The frontal hairline was upswept and hair sparse. The ears had 15° of posterior rotation. The nasal bridge was prominent with a high insertion. The repaired cleft palate was narrow and elevated with a bifid uvula. There was moderate retrognathia with prominent large central incisors and hypodontia. Sweat pores on the dermal ridges were not reduced.The mother had mild scoliosis which never required treatment but no other features suggesting she carried the gene. A maternal uncle had micrognathia and the maternal grandmother had scoliosis and a VSD. Review of family photographs did not suggest features of Fryns-Soekerman syndrome in these individuals.We feel our case represents the fourth case of Fryns-Soekerman syndrome and expands the phenotype to include syringomyclia, eleven ribs and Wolff-Parkinson-White type B.