A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities

Abstract

Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance.

Misuse of the descriptor “Marfanoid”

“…Giacheti et al 2007 describe an interesting family that they consider to have a new and recognizable syndrome. The condition is characterized by what appears to be postnatal onset of tall and thin stature with a long face and specific language and learning disabilities.…”

Reply to Hunter's letter on the “misuse of the descriptor “Marfanoid””

“…Dr. Hunter's interest in the family described in the American Journal of Medical Genetics [Giacheti et al, 2007] is gratifying. Actually the patients have presented with postnatal onset of tall and thin stature and learning and language disabilities.…”