Abstract
Mixed clefting type (MCT) is the rare occurrence of cleft lip, with or without cleft palate, and cleft palate alone in the same pedigree. Here we present a family with Rapp-Hodgkin syndrome (RHS) that manifests MCT, and use this rare finding to suggest that RHS may be related not only to phenotypically similar syndromes, but seemingly dissimilar ones as well. RHS has obvious phenotypic overlap with other ectodermal dysplasia-clefting syndromes (EDCS), such as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) and ankyloblepharon-ectodermal dysplasia-clefting syndrome (AEC), all of which show MCT. MCT is also found in the allelic disorders van der Woude syndrome (VDW) and popliteal-pterygium syndrome (PPS). Therefore, while VDW and PPS have little clinical overlap with the EDCS, the common finding of MCT may indicate closer relationships at the developmental or genetic level.
References
Mar 1, 1976·The British Journal of Dermatology·R J Hay, R S Wells
Jun 1, 1990·American Journal of Medical Genetics·A Hunter
Sep 1, 1990·American Journal of Medical Genetics·E S Rodini, A Richieri-Costa
Aug 1, 1985·Clinical Genetics·W KüsterP Meinecke
Aug 1, 1970·American Journal of Diseases of Children·R A RüdigerE Passarge
Dec 1, 1968·Journal of Medical Genetics·R S Rapp, W E Hodgkin
Jan 1, 1980·American Journal of Medical Genetics·P JankuM T Edgerton
Aug 1, 1994·Human Molecular Genetics·S W SchererS Little
Jan 1, 1994·The British Journal of Dermatology·S CambiaghiR Caputo
Jun 14, 1996·American Journal of Medical Genetics·P Moerman, J P Fryns
Jan 1, 1997·Human Genetics·D F WyszynskiT H Beaty
Jul 27, 1999·American Journal of Human Genetics·C M BrewerD R FitzPatrick
Oct 27, 1999·Cell·J CelliH van Bokhoven
Dec 23, 1999·American Journal of Medical Genetics·M BamshadJ C Carey
Dec 29, 1999·Human Mutation·A HamoshV A McKusick
Feb 13, 2001·Human Molecular Genetics·J A McGrathH van Bokhoven
Citations
Dec 18, 2002·Clinical Genetics·A R VieiraJ C Murray
Nov 28, 2008·Human Molecular Genetics·Hayley J LittlePaul Shore
Dec 6, 2012·Plastic Surgery International·Luciano Abreu BritoMaria Rita Passos-Bueno
Sep 15, 2009·Lancet·Peter A MosseyWilliam C Shaw
Apr 6, 2005·Clinical and Experimental Dermatology·V ShotelersukS Tongkobpetch
Oct 4, 2005·Journal of the American Academy of Dermatology·Sung-Wook ParkJerry Shapiro
May 27, 2003·Journal of Dental Research·P N KantaputraJ A McGrath
Oct 26, 2005·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Alexandra S KnightMichael J Dixon
Dec 4, 2009·The Journal of Clinical Pediatric Dentistry·Gul Tosun, Ulku Elbay