Atypical crossed polydactyly in two siblings with Ellis‐van Creveld Syndrome and mild clinical manifestations in close relatives

Polydactyly can occur as a simple malformation or as a part of a syndrome. It is characterized by the presence of one or more supernumerary digits that may vary from a hypoplastic soft tissue to a fully formed digit. It is classified into three major groups based on the location of extra digit: medial ray (preaxial), central ray, and lateral ray (postaxial). 1 Mixed polydactyly is defined as polydactyly with both preaxial and postaxial involvement simultaneously. It is divided into three subclasses: ‘upper-mixed’, ‘lower-mixed’ and ‘crossed’ poldactyly relating to involvement of the hands alone, the feet alone or both hands and feet. 2

[1]  W. Blauth,et al.  Classification of polydactyly of the hands and fee , 2004, Archives of orthopaedic and traumatic surgery.

[2]  J. Goodship,et al.  Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. , 2003, American journal of human genetics.

[3]  L. Michalis,et al.  Cardiac Ellis-van Creveld syndrome. , 2003, International journal of cardiology.

[4]  V. McKusick.  Ellis-van Creveld syndrome and the Amish , 2000, Nature Genetics.

[5]  R. Suzuki,et al.  Ellis-van Creveld Syndrome: Craniofacial Morphology and Multidisciplinary Treatment , 1999, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

[6]  A. Guttmacher,et al.  Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. , 1997, American journal of human genetics.

[7]  T. Takagi,et al.  Lateral ray polydactyly: a case of duplicated metatarsal with normal phalanges. , 1997, Annals of Plastic Surgery.

[8]  A. Cila,et al.  Rhombencephalosynapsis associated with hand anomalies. , 1997, British Journal of Radiology.

[9]  M. Polymeropoulos,et al.  The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. , 1996, Genomics.

[10]  J. Fryns.  Postaxial polydactyly as heterozygote manifestation in Ellis-Van Creveld syndrome? , 1991, American journal of medical genetics.

[11]  S. Rosemberg,et al.  Brief clinical report: chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract. , 1983, American journal of medical genetics.

[12]  D. Cavalcanti,et al.  Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. , 1980, Journal of medical genetics.

[13]  V. McKusick,et al.  The genetics of hand malformations. , 1978, Birth defects original article series.

[14]  P. Nathan,et al.  Crossed polydactyly. Case report and review of the literature. , 1975, The Journal of bone and joint surgery. American volume.