Volume 17; Issue 3

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Clinical Dysmorphology
Volume 17; Issue 3

Clinical Dysmorphology

Volume 17; Issue 3

1

A familial dysmorphic condition with hypotonia, seizures and precocious puberty

Smith, Audrey, Leask, Kathryn, Tomlin, Pamela, Donnai, Dian

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 151 KB

english, 2008

2

Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay

Koene, Saskia, Kluijtmans, Leo A. J., Wevers, Ron, Mock, Donald, Pasch, Marcel, Morava, Eva

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 148 KB

english, 2008

3

Deletion 3q22.1???q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype

Croft, Marion S., Turnpenny, Peter D.

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 191 KB

english, 2008

4

No mutation in genes of the WNT signaling pathway in patients with Zimmermann–Laband syndrome

Abo-Dalo, Benjamin, Roes, Melanie, Canún, Sonia, Delatycki, Martin, Gillessen-Kaesbach, Gabriele, Hrytsiuk, Ihor, Jung, Christine, Kerr, Bronwyn, Mowat, David, Seemanova, Eva, Steiner, Carlos E., Stew

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 115 KB

english, 2008

5

Keipert syndrome: two further cases and review of the literature

Nik-Zainal, Serena, Holder, Sue E., Cruwys, Michelle, Hall, Christine M., Shaw-Smith, Charles

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 399 KB

english, 2008

6

Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation

Freeman, Lucinda, Elakis, George, Watson, Geoff, Mullan, Glenda L., Taylor, Peter J., Anderson, Peter, Ogle, Robert, Buckley, Michael F., Roscioli, Tony

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 73 KB

english, 2008

7

Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder?

OʼDriscoll, Mary C., Clayton-Smith, Jill

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 143 KB

english, 2008

8

Complementation in a 45, X/47, XX, +14 patient?

Rivera, Horacio

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 33 KB

english, 2008

9

Skull defects, alopecia and distinctive facies: a new syndrome?

Kariminejad, Ariana, Bozorgmehr, Bita, Ashrafi, Mahmoud R., Kariminejad, Mohamad Hasan

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 115 KB

english, 2008

10

Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome?

Khan, Ayesha, Zafar, Saemah N.

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

11

A further case of micrognathia, aglossia, and situs inversus totalis with additional features

Faqeih, Eissa, Farra, Hassan, Al-Hassnan, Zuhair

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 93 KB

english, 2008

12

Congenital scoliosis, supernumerary nipples and spina bifida occulta

Panigrahi, Inusha, Saxena, Akshay, Marwaha, Ram Kumar

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 169 KB

english, 2008

13

Vascular malformations and upper extremity anomalies associated with a subtelomeric microdeletion of chromosome 4p

Khonsari, Roman Hossein, Blechman, Keith M., Michaels, Joe, Vigler, Mordechai, Chiu, David T.W., Wallerstein, Robert, Blei, Francine

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 102 KB

english, 2008

14

Potocki???Lupski syndrome mimicking a connective tissue disorder

Martin, Judy, Knight, Samantha J.L., Sharp, Andrew J., Eichler, Evan E., Hurst, Jane, Kini, Usha

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 132 KB

english, 2008

15

Localized acalvaria with craniosynostosis

Faqeih, Eissa, Patay, Zoltan, Rahbeeni, Zuhair, Murtada, Jamila, Al Shail, Essam, Hall, Judith G.

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 251 KB

english, 2008

16

Arthrogryposis in association with Peters?? anomaly

Kinning, Esther, Barrow, Margaret

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 164 KB

english, 2008

17

A new case of VACTERL association with congenital arachnoid cyst

Ünal, Sevim, Kibar, Ayse Esin, Özaydn, Eda, Karadag, Nilgün, Balci, Sevim

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 77 KB

english, 2008

18

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene

Zechi-Ceide, Roseli Maria, Jesus Oliveira, Nélio Alessando, Guion-Almeida, Maria Leine, Antunes, Luís Fernando B.B., Richieri-Costa, Antonio, Passos-Bueno, Maria Rita Santos

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 103 KB

english, 2008

19

Achondrogenesis type II with cutaneous hamartomata

Wainwright, Helen, Beighton, Peter

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 200 KB

english, 2008

20

Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome

Shahdadpuri, Raveen, OʼMeara, Anne, OʼSullivan, Maureen, Reardon, William

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 186 KB

english, 2008

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