We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype. Furthermore, it demonstrates the necessity of close follow-up in the first year of life for children with 18p deletion syndrome and emphasizes the need to verify radiology impressions if there is any doubt as to the radiologic findings.

Infantile congenital fibrosarcomas are rare neoplasms that usually present on the extremities, and although they are locally invasive, they rarely metastasize. They are commonly misdiagnosed as hemangiomas or other vascular tumors, so further evaluation by pathology is required for proper diagnosis. We describe a newborn with a neoplastic growth of the lower lip that was thought to be an infantile hemangioma that did not respond to therapy. When the child was 2 months old, an incisional biopsy demonstrated a fibrosarcoma. This case highlights congenital infantile fibrosarcoma as a mimic of infantile hemangioma. To our knowledge this is first case report of congenital infantile fibrosarcoma involving the lip.

We present a female child with Peutz–Jeghers syndrome (PJS) with a recurrent ovarian Sertoli–Leydig cell tumor (SLCT). SLCTs are relatively rare sex cord neoplasms that can occur in PJS. The patient was an African-American female who first presented at the age of 3 years with precocious puberty, and then at the age of 17 years with abdominal pain and irregular menses. In each case, she had resection of the mass, which included oophorectomy. To our knowledge, this is the first reported case in a child with PJS to have a recurrent ovarian SLCT.