ECE2013 Poster Presentations Clinical case reports – Pituitary/Adrenal (57 abstracts)
Introduction: BaraitserWinter syndrome (BWS) is a rare brain malformation leading to droopy eyelids and intellectual disabilities. This syndrome, first reported in 1988, is probably due to genetic abnormalities that are still not well defined, although eight gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes ACTB and ACTG1 have been recently discovered (Riviere Nature Genetic 2012). The syndrome combines iris coloboma, bilateral ptosis, hyper telorism, broad nasal bridge, prominent epicanthic folds, brain malformations, and growth and mental retardation. To our best knowledge only 20 cases have been reported so far, among them five from Arab origin. Our aim is to describe the sixth Arab child with a phenotype that looks like BaraitserWinters syndrome.
Case report: A girl aged 7 years old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in mental development. Other clinical features included: strabism, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma and cerebral atrophy. Hormonal exploration showed partial GH deficiency without other endocrine disorders.
Conclusion: Our case looks exactly like SWS. But, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds another abnormality to this very rare syndrome.