Academic journal article Genetic Counseling

Perinatal Imaging Findings of Galloway-Mowat Syndrome

Academic journal article Genetic Counseling

Perinatal Imaging Findings of Galloway-Mowat Syndrome

Article excerpt

The male infant was the first child of a 29-year-old father and a 29-year-old mother. The parents were healthy and non-consanguineous. The family history was unremarkable. The infant was delivered at 36 weeks' gestation with a birth weight of 2345 g. Prenatal ultrasound in late gestation revealed intrauterine growth restriction, microcephaly, and oligohydramnios. Postnatally, the infant manifested hypotonia, microcephaly, a slopping forehead, hypertelorism, epicanthal folds, microphthalmos, large low-set floppy ears, a small midface, a small pinched nose, a highly arched palate, micrognathia, clenched hands, camptodactyly and slenderness of the digits (Figs 1 and 2). At age one month, the infant manifested developmental delay, hypoalbuminemia and proteinuria. Magnetic resonance imaging (MRI) documented a small head, gyral abnormalities, frontal pachygyria and deficient myelination, which were consistent with the diagnosis of Galloway-Mowat syndrome (Fig. 3). The infant died of multiple organ failure at age two months.

Galloway-Mowat syndrome (OMIM *251300) is a rare autosomal recessive disorder that is characterized by the presence of early-onset corticosteroid-resistant nephrotic syndrome, microcephaly, developmental delay, and abnormal sulci and gyri of the brain (2, 4). Additional findings include hiatal hernia, ptosis, corneal opacity, cataract, microphthalmos, hypoplastic iris, optic atrophy, a slopping forehead, flat occiput, hypertelorism, large low-set floppy ears, a small midface, a small pinched nose, high-arched palate, micrognathia, club feet, camptodactyly, flexion contractures of joints, notched ears, hypoplastic nails, eventration of diaphragm, ovarian agenesis, atrophie thymus, calcification of the intervertebral discs, platybasia, Dandy-Walker malformation, aqueductal stenosis with hydrocephalus, and central canal malformation (4). Slendemess of the fingers and toes has been observed in some Taiwanese patients affected with Galloway-Mowart syndrome (1,3). We present an additional case with characteristic features of Galloway-Mowat syndrome. …

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