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The patient was a 32-year-old woman, gravida three, para one with one prior cesarean section. She became pregnant spontaneously, but the pregnancy implanted in the isthmus of the right fallopian tube, and therefore, she underwent laparoscopic right salpingectomy. Eight months later, another spontaneous pregnancy occurred. the patient experienced abdominal pain and an ultrasound examination revealed a hematoma around the right cornual region. A wedge-shaped incision was made in the cornual pregnancy using monopolar cauterization, and the myometrium was sutured with a single nodule suture. We report a case of spontaneous cornual pregnancy after ipsilateral salpingectomy for an isthmic pregnancy.

Campomelic dysplasia is an autosomal dominant skeletal dysplasia caused by heterozygous SOX9 mutations. Most patients are sporadic due to a de novo mutation. Familial campomelic dysplasia is very rare. We report on a familial campomelic dysplasia caused by maternal germinal mosaicism. Two siblings showed the classic campomelic dysplasia phenotype with a novel SOX9 mutation (NM_000346.3: c.441delC, p.(Asn147Lysfs*36)). Radiological examination of the mother showed mild skeletal changes. Then, her somatic mosaicism of the mutation was ascertained. This is the first report of molecularly confirmed maternal germinal mosaicism for a SOX9 mutation. We suggest that a meticulous clinical examination of the parents, even if they are superficially healthy, is needed to avoid overlooking germinal mosaicism of SOX9 mutations.

No abstract