Two siblings born preterm with large ears and hypopigmented hair who developed palmoplantar keratoderma and frontal skull bossing: a new syndrome?
This article discusses two children with an unknown syndrome characterized by palmoplantar keratoderma (PPK), hypopigmented hair, large ears, and frontal bossing. The children were both born preterm, with low birthweights, to consanguineous parents. They developed PPK shortly after birth. In addition, the younger child also has esotropia affecting the right eye. We made a thorough review of the literature but were unable to find a syndrome with all the features described above. To the best of our knowledge, we describe a new syndrome with an autosomal recessive mode of inheritance.
D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006197:Hair / Q000002:abnormalities; D006200:Hair Color; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics; D007223:Infant; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D007234:Infant, Premature; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D008297:Male; D012886:Skull / Q000002:abnormalities; D013577:Syndrome