Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2

✍ Scribed by Clark, Robin Dawn ;Fenner-Gonzales, Melissa

• Publisher: John Wiley and Sons
• Year: 1989
• Tongue: English
• Weight: 596 KB
• Volume: 34
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320340319

✦ Synopsis

We report on a newborn boy with manifestations of F'ryns syndrome who also had a mosaic tandem duplication of chromosome 1q24-31.2. The child had a diaphragmatic hernia, cleft palate, hypoplastic and absent digits, micrognathia, long philtrum, thin upper lip, and anteverted nose. The baby died at age 5 hours. An autopsy demonstrated absent right middle lobe of the lung, bilateral renal cysts, hypoplastic renal arteries, urethral stricture, hydronephrosis, and aortic coarctation. The brain was abnormal with absent olfactory tracts and cerebral and cerebellar heterotopias. This is the first report of a chromosome anomaly in a child with Fryns phenotype. It suggests that the gene for F'ryns syndrome may be located in the region 1q24-31.2.