Clinical Dysmorphology - Current Table Of Contents

Clinical Dysmorphology - July 2008, Volume 17, Issue 3

Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and develo - (Found September 17, 2008 )

Page: 195DOI: 10.1097MCD.0b013e3282fe99c4Authors: Koene, Saskia a; Kluijtmans, Leo A. J. c; Wevers, Ron c; Mock, Donald d e; Pasch, Marcel b; Morava, Eva a
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00010.htm

Vascular malformations and upper extremity anomalies associated with a subtelomeric microdeletion of chromosome 4p. - (Found September 17, 2008 )

Page: 193DOI: 10.1097MCD.0b013e3282fdcc56Authors: Khonsari, Roman Hossein a; Blechman, Keith M. b; Michaels, Joe b; Vigler, Mordechai b; Chiu, David T.W. b d; Wallerstein, Robert e; Blei, Francine b c
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00009.htm

Deletion 3q22.1-q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype. - (Found September 17, 2008 )

Page: 189DOI: 10.1097MCD.0b013e3282f4a984Authors: Croft, Marion S.; Turnpenny, Peter D.
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00008.htm

Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome - (Found September 17, 2008 )

Page: 187DOI: 10.1097MCD.0b013e3282f34a21Authors: Khan, Ayesha; Zafar, Saemah N.
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00007.htm

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. - (Found September 17, 2008 )

Page: 181DOI: 10.1097MCD.0b013e3282f2514cAuthors: Abo-Dalo, Benjamin a; Roes, Melanie a; Canun, Sonia e; Delatycki, Martin f; Gillessen-Kaesbach, Gabriele b; Hrytsiuk, Ihor i; Jung, Christine c; Kerr, Bronwyn j; Mowat, David g; Seemanova, Eva l; Steiner, Carlos E. m; Stewart, Helen k; Thierry, Patrick n; van Buggenhout, Griet o; White, Sue h; Zenker, Martin d; Kutsche, Kerstin a
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00006.htm

Arthrogryposis in association with Peters' anomaly. - (Found September 17, 2008 )

Page: 177DOI: 10.1097MCD.0b013e3282f4a127Authors: Kinning, Esther; Barrow, Margaret
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00005.htm

Keipert syndrome: two further cases and review of the literature. - (Found September 17, 2008 )

Page: 169DOI: 10.1097MCD.0b013e3282f4afc3Authors: Nik-Zainal, Serena a; Holder, Sue E. b; Cruwys, Michelle c; Hall, Christine M. d; Shaw-Smith, Charles a
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00004.htm

Localized acalvaria with craniosynostosis. - (Found September 17, 2008 )

Page: 165DOI: 10.1097MCD.0b013e3282f4a10eAuthors: Faqeih, Eissa a; Patay, Zoltan b; Rahbeeni, Zuhair c; Murtada, Jamila d; Al Shail, Essam d; Hall, Judith G. e
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00003.htm

A familial dysmorphic condition with hypotonia, seizures and precocious puberty. - (Found September 17, 2008 )

Page: 161DOI: 10.1097MCD.0b013e328302f0c4Authors: Smith, Audrey a; Leask, Kathryn a; Tomlin, Pamela b; Donnai, Dian a
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00002.htm

Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder - (Found September 17, 2008 )

Page: 157DOI: 10.1097MCD.0b013e3283023d0cAuthors: O'Driscoll, Mary C.; Clayton-Smith, Jill
http://www.clindysmorphol.com/pt/re/mcd/abstract.00019605-200807000-00001.htm