Holt-Oram Syndrome with Sacrococcygeal Teratoma - A Rare Association

Abstract

Holt-Oram syndrome (HOS) is characterized by upper-limb defects and congenital heart malformation, and its prevalence is very rarely. Mature cystic teratoma is the most common tumor seen in neonates and its most common location is sacrococcygeal region. Diagnosis of a sacrococcygealteratoma should be confirmed by pathology. Surgical resection is the mainstay therapeutic approach of this tumor. Some malformations such as genitourinary system, musculoskeletal anomalies, neural defects, cardiovascular anomalies, and pulmonary disorders associated with this tumor have been reported. Herein, we reported a male neonate diagnosed with HOS associated with sacrococcygealteratoma. To our knowledge, it has been not reported a case with HOS associated with sacrococcygealteratoma. Patients with sacrococcygealteratomas (SCTs) may have multiple and extreme congenital abnormalities; therefore, patients with SCTs should be carefully evaluated clinically, laboratory, and radiologically and it should be also considered that HOS may accompany them.

Keywords: Holt-Oram syndrome; newborn; sacrococcygeal region; teratoma.