title: New case of Bartsocas-Papas syndrome surviving at 20 months.
abstract: We report on patient with Bartsocas-Papas syndrome surviving at age 20 months. Similar to 7 previously reported families, this patient is of Mediterranean ancestry, pointing to clustering of the responsible mutant gene in Southern Europe. In 3 of the 11 Bartsocas-Papas syndrome patients described so far, including the present case, the condition has not been neonatally lethal. This suggests that about one-fourth of these patients could survive. This information is important for genetic counseling.
authors.affiliation: Department of Medical Genetics, Bambino Gesù Hospital, I.R.C.C.S., Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: M C
authors.initials: MC
authors.lastname: Digilio
authors.forename: L
authors.initials: L
authors.lastname: Standoli
authors.forename: M
authors.initials: M
authors.lastname: Zama
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007223:Infant; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D013577:Syndrome