J Pediatr Genet 2017; 06(02): 107-110
DOI: 10.1055/s-0036-1593967
Case Report
Georg Thieme Verlag KG Stuttgart · New York

The Clinical Manifestations and Genetic Implications of Baraitser–Winter Syndrome Type 2

Tanya C. Allawh
1   Edward Via College of Osteopathic Medicine, Blacksburg, Virginia, United States
,
Barry Scott Brown
2   LewisGale Alleghany Medical Center, Low Moor, Virginia, United States
› Author Affiliations
Further Information

Publication History

17 July 2016

13 October 2016

Publication Date:
10 November 2016 (online)

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Abstract

An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned as he was experiencing signs of developmental delay and a mild floppy tone, in addition to facial features that resembled some form of mental retardation. The patient's older brother also experienced similar developmental symptoms and facial features that presented around the same age period as our patient. It was initially thought to be Down syndrome; however, both the patient and his brother tested negative for Down syndrome on chromosomal analyses. There was also a question of whether the patient had some form of autism spectrum disorder, but doctors were unable to specifically confirm this. Now at the age of 18 years, the patient has no understandable speech with distinctive facial features such as a broad nasal bridge and prominent epicanthic folds, lissencephaly, smaller than average head size, intellectual disability, and hearing loss. It was discovered, through trio-based exome sequencing, that the patient had a de novo missense mutation (p.Ser155Phe) in the ACTG1 gene, which has been linked to the rare syndrome known as Baraister–Winter syndrome type 2. Baraitser–Winter syndrome 2 is a unique variant that is clinically similar to Baraitser–Winter syndrome type 1; however, only seven previous cases have been reported.