Abstract
We report a black infant with Galloway syndrome (congenital microcephaly, hiatus hernia and nephrosis), a rare autosomal recessive disorder. Previously reported four cases of the syndrome belonged to two families of European ancestry.
The proposita was the first born of a young, healthy, nonconsanguineous couple, who denied exposure to teratogens prior to and through pregnancy. During the seventh month fetal size was judged to be small, and fetal movements were considered of low intensity. Three ultrasound examinations demonstrated microcephaly. The infant, born at term, weighed 2.6 Kg and had occiptofrontal circumference (OFC) 28.5cm. Other pertinent findings included very small anterior fontanelle, sloping forehead, prominent root of the nose, hyperteloric eyes, m.icrognathia, narrow high arched palate, small umbilical hernia, long tapering fingers, and generalized hypotonia. A giemsa-banded karyotype was normal.
Infant's postnatal growth was poor and psychomotor development remained at a standstill. She frequently vomited her feeds. At the age of seven months grand mal seizures appeared, and at 10 months she was admitted to a hospital for diagnosis and management of nephrosis. At this time her weight and length were below the 5th percentile, and OFC was 35.5cm. Barium study did not show hiatus hernia. A renal biopsy specimen showed segmental glomerulosclerosis.
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Qazi, Q., Sheikh, T., Beller, E. et al. 848 GALLOWAY SYNDROME IN A BLACK INFANT. Pediatr Res 19, 252 (1985). https://doi.org/10.1203/00006450-198504000-00878
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DOI: https://doi.org/10.1203/00006450-198504000-00878
