Clinical Dysmorphology - Current Table Of Contents

Clinical Dysmorphology - July 2008, Volume 17, Issue 3

Complementation in a 45, X47, XX, +14 patient - (Found September 17, 2008 )

Page: 227DOI: 10.1097MCD.0b013e3283023d24Authors: Rivera, Horacio a b
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00020.htm

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene. - (Found September 17, 2008 )

Page: 225DOI: 10.1097MCD.0b013e3282fe1b8eAuthors: Zechi-Ceide, Roseli Maria a; Jesus Oliveira, Nelio Alessando b; Guion-Almeida, Maria Leine a; Antunes, Luis Fernando B.B. a; Richieri-Costa, Antonio a; Passos-Bueno, Maria Rita Santos b
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00019.htm

Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation. - (Found September 17, 2008 )

Page: 223DOI: 10.1097MCD.0b013e3282fdcc86Authors: Freeman, Lucinda a; Elakis, George b; Watson, Geoff c; Mullan, Glenda L. b; Taylor, Peter J. b; Anderson, Peter d; Ogle, Robert a; Buckley, Michael F. b; Roscioli, Tony a b e
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00018.htm

A new case of VACTERL association with congenital arachnoid cyst. - (Found September 17, 2008 )

Page: 221DOI: 10.1097MCD.0b013e3282fc6ff8Authors: Unal, Sevim a; Kibar, Ayse Esin b; Ozaydn, Eda blatin dotless i; Karadag, Nilgun b; Balci, Sevim c
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00017.htm

Congenital scoliosis, supernumerary nipples and spina bifida occulta. - (Found September 17, 2008 )

Page: 215DOI: 10.1097MCD.0b013e3282fc6fdcAuthors: Panigrahi, Inusha; Saxena, Akshay; Marwaha, Ram Kumar
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00015.htm

A further case of micrognathia, aglossia, and situs inversus totalis with additional features. - (Found September 17, 2008 )

Page: 219DOI: 10.1097MCD.0b013e3282f73731Authors: Faqeih, Eissa a; Farra, Hassan a; Al-Hassnan, Zuhair b
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00016.htm

Potocki-Lupski syndrome mimicking a connective tissue disorder. - (Found September 17, 2008 )

Page: 211DOI: 10.1097MCD.0b013e328303b9c2Authors: Martin, Judy a; Knight, Samantha J.L. b; Sharp, Andrew J. d; Eichler, Evan E. d e; Hurst, Jane c; Kini, Usha c
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00014.htm

Achondrogenesis type II with cutaneous hamartomata. - (Found September 17, 2008 )

Page: 207DOI: 10.1097MCD.0b013e328300595cAuthors: Wainwright, Helen a; Beighton, Peter b
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00013.htm

Skull defects, alopecia and distinctive facies: a new syndrome - (Found September 17, 2008 )

Page: 203DOI: 10.1097MCD.0b013e3282fba59dAuthors: Kariminejad, Ariana a; Bozorgmehr, Bita a; Ashrafi, Mahmoud R. b; Kariminejad, Mohamad Hasan a
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00012.htm

Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome. - (Found September 17, 2008 )

Page: 199DOI: 10.1097MCD.0b013e3282f5f4e3Authors: Shahdadpuri, Raveen; O'Meara, Anne; O'Sullivan, Maureen; Reardon, William
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00011.htm