Goldenhar Syndrome –A Rare Case Report

Bart syndrome

“…Bruce J Bart in 1966 first described a large kindred with aplasia cutis congenita (ACC) involving lower extremities, blistering lesions of skin and/or oral mucosa, absence or dystrophy of nails and improvement of the blistering process after puberty [1][2][3] . However, he could not classify the disease due to the unavailability of ultrastructural and immune histochemical studies at that time 4 .…”

“…The inheritance is autosomal dominant with complete penetrance but sporadic cases have been reported [1][2][3][4][5][6] . Zelickson et al has performed genetic linkage analysis of the descendants of the original family, mapping the gene to chromosome 3p at or close to the site of the gene encoding type VII collagen 4 .…”

“…Prophylactic antibiotics are usually not recommended and patient should be closely followed up for serious complications such as haemorrhage, hypothermia and hypoglycaemia 1,8 . The prognosis of the disease is generally good with normal life expectancy [1][2][3][4][5][6]8 .…”

“…*Sathika Amarasekara 1 , Shyama Basnayake 2 Sri Lanka Journal of Child Health, 2021; 50(1): 173-175 DOI: http://dx.doi.org/10.4038/sljch.v50i1.9425 (Key words: Bart syndrome, epidermolysis bullosa, aplasia cutis)…”