Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects

Clinical Features

Gershoni-Baruch et al. (1990) reported a male infant with a giant omphalocele containing liver and intestines, diaphragmatic hernia, hepatic cyst, bilateral radioulnar synostosis, absent left thumb, and triphalangeal right thumb. Radiographically, there was absence of the right metacarpal and phalanges, and 3 normal first phalanges. The face was unusual, with short, downslanting palpebral fissures, bushy eyebrows, high nasal bridge, short pointed nose, anteverted nostrils, malar hypoplasia, and micrognathia. The ears were low set and posteriorly angulated; the right ear was small and dysplastic. The upper lip was thin, long, and downturned with a midline beak. The neck was short, with a low hairline and a tongue-like extension of hair onto the cheeks; the skin was thick and hirsute. The chest was bell-shaped. The G-banded karyotype was normal. The patient died at 12 days of age after 2 operations to repair the omphalocele.

Devriendt et al. (1999) described a female infant with a large omphalocele containing approximately half the liver and small intestine, severe cervicothoracic scoliosis, narrow thorax with thin ribs, agenesis of the right radius and thumb, normal left hand with transverse palmar crease, and normal lower limbs. The child required artificial ventilation and died after 3 days. Postmortem examination revealed lung hypoplasia due to bilateral eventration of the diaphragm, absence of the right umbilical artery, intestinal malrotation, 2 small accessory spleens, and hypoplastic ovaries. The face was triangular with horizontal palpebral fissures and mild retrognathia. Devriendt et al. (1999) noted that their patient strongly resembled the sibs reported by Bird et al. (1994) (see DK phocomelia syndrome, 223340).

Franceschini et al. (2003) reported 2 sibs, a female fetus and a male fetus, delivered through termination at 23 and 9 weeks of gestation, respectively. The female fetus had an omphalocele containing the liver and small intestine, a 6.5 cm thoracolumbar rachischisis, a posterior diaphragmatic hernia, absent left kidney, and a single umbilical artery. Upper and lower extremities were normal. The male fetus had multiple limb malformations with bilateral generalized syndactyly with hypoplasia and radial deviation of the thumbs and numerical reduction of the toes. There was no omphalocele, but the abdominal wall was interrupted in the right hypochondrium with liver protrusion; there was a single umbilical artery.

Inheritance

Franceschini et al. (2003) noted that the familial cases he described supported the hypothesis of autosomal recessive inheritance.