title: Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?
abstract: We report on a case with apparently familial multiple pterygium syndrome (MPS). The proposita was a 3-year-old girl with classical symptoms of MPS. A careful clinical examination of the father disclosed the presence of few minor signs of the syndrome, including difficulty in opening the mouth widely, scoliosis, pectus excavatum, hands with slight cutaneous syndactyly, and bilateral single palmar creases. The radiograph of the hands disclosed malformed carpal bones and an altered metacarpal-phalangeal pattern. The father shows limited symptoms, which has been reported before in the autosomal dominant form of MPS. However, it is also possible that he is showing a heterozygous state of the autosomal recessive form of MPS. In conclusion, we emphasize the importance of examining accurately the parents of a child who has classical MPS phenotype, even those with normal stature and an absence of facial anomalies.
authors.affiliation: Università di Ferrara, Genetica Medica, 44100 Ferrara, Italy. pprontera@hotmail.com
authors.forename: Paolo
authors.initials: P
authors.lastname: Prontera
authors.forename: Alberto
authors.initials: A
authors.lastname: Sensi
authors.forename: Luciano
authors.initials: L
authors.lastname: Merlo
authors.forename: Gianpaolo
authors.initials: G
authors.lastname: Garani
authors.forename: Guido
authors.initials: G
authors.lastname: Cocchi
authors.forename: Elisa
authors.initials: E
authors.lastname: Calzolari
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000473:pathology*; D013577:Syndrome