Prenatal diagnosis of Jarcho-Levin syndrome Diagnóstico prenatal del síndrome de Jarcho-Levin

Abstract

The Jarcho-Levin syndrome is a rare heterogeneous entity characterized by facial dysmorphism, short-neck, short-trunk, normal sizes limbs, with multiple vertebral anomalies at all levels of the vertebral column and ribs defects. The syndrome has been classified into 2 major clinical phenotypes, based on the extent and distribution of skeletal anomalies, the pattern of inheritance and the prognosis. The prenatal sonographic appearance is characterized by the presence of fanned-out ribs from fused thoracic vertebral bodies. Due to the rarity of this condition, there are a limited number of reports in the scientific literature and very few are diagnosed prenatally. We report a case of Jarcho-Levin syndrome in a 16-year-old pregnant woman with a 31 weeks pregnancy and no prominent pathological history. Ultrasound revealed a single fetus with biometrics compatible with 27 weeks. We found shortened vertebral column with extreme deformity and moderate scoliosis, wide medullary canal, segmentation of vertebral bodies in the lower thoracic and lumbar areas, increased intervertebral distance with the short and narrow thorax, hyper flexed short neck and occiput appeared to merge with the cervical vertebrae. Cesarean section was performed at term due to acute fetal distress, resulting in a newborn male birth. Physical examination showed normal cephalic circumference, short thorax, short and rigid neck, thoracic kyphoscoliosis with restriction of the respiratory pattern, bulging abdomen. No facial or cranial alterations were observed. After 4 days the newborn dies due to acute respiratory failure.