Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review

Abstract

We report one case of a fetus of sirenomelia sequence with Potters syndrome which showed oligohydramnios and symelia apus. The infant showed absent urinary tract and external genitalia, the legs were fused by skin and had separate bones associated with Potter's syndrome. The mother had a history of gestational diabetes mellitus.

Keywords: Gestational diabetes mellitus; Potter's syndrome; Sirenomelia; Symelia apus.

Figure 1

Examination of the infant revealed: the face showed all the features as described by Potter (flattening of the nose, recession of the chin, soft flat ears, with apparent absence of the cartilage, and low positioning of the eras, the eyes showed hypertelorism (a wide inter-ocular distance, and prominent epicanthal folds, forming a wide semicircle on each side of the nose and covering medial palpebral commissure).

Figure 2

Sirenomelia (symelia apus): The lower limbs were joined together, the site of the fusion being along the postaxial of the limbs (being fused together in midline)

Figure 3

Anteroposterior radiograph of the axial and the appendicular skeleton showed hypoplasia of iliac bones , sacral agenesis causing effectively the development of severe spondylopelvic dissociation, multiple vertebral and rib malformation complex also showed the presence of both femora, tibiae with a single rudimentary and hypoplastic fibula impacted between the tibiae (arrow).