A Rare Case Report of Roberts-Sc Phocomelia Syndrome

Introduction Phocomelia is a condition that occurs in rare cases where the proximal aspect of an extremity is absent and has been associated with various syndromes. Among them, Robert's syndrome is one of the most common cases. Roberts-SC phocomelia syndrome is a malformation that has an autosomal recessive inheritance pattern and is determined through skeletal deformations, particularly symmetrical limb reduction and craniofacial anomalies. Case Presentation The fetus was referred to our center followed by legal abortion in the 13th week of pregnancy. In the ultrasound report of the fetus at the 12th week, hypoplasia of the limbs and agenesis of the lower vertebrae of the spine were noted. In the physical examination, multiple congenital anomalies such as short stature, severe shortness of four limbs, oligodactyly, low-set ears, and micrognathia were seen. The family history, clinical, and radiographic examination were performed. Considering that many phocomelia syndromes were suspected in the differential diagnosis, thus WES was recommended for the evaluation of this fetus. WES was done using the Illumina platform and Agilent SureSelect V7 library preparation kit. The homozygous (c.417del; p. Lys139AsnfsTer6) mutation in ESCO2 was identified in the fetus. Confirmation of this mutation and evaluation of the unaffected parents were done by Sanger sequencing. The parents were heterozygous. Conclusion Roberts-SC phocomelia syndrome can be attributed to a homozygous mutation in ESCO2, as confirmed by our findings. Genetic counselling for this couple and other relatives is highly recommended as the first line of prevention and leading to effective prenatal diagnosis.