Volume 15; Issue 2

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Clinical Dysmorphology
Volume 15; Issue 2

Clinical Dysmorphology

Volume 15; Issue 2

1

Mild case of Curry???Jones syndrome

Thomas, Ellen R.A., Wakeling, Emma L., Goodman, Frances R., Dickinson, John C., Hall, Christine M., Brady, Angela F.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 211 KB

english, 2006

2

Distinctive collection of fetal anomalies: cleft lip and palate, multicystic dysplastic kidneys, 1???2 syndactyly, heterotopic olivary tissue and thymic hypoplasia

Tan, Tiong Yang, Nazaretian, Simon, McGillivray, George, Simpson, Ian, Bankier, Agnes

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 386 KB

english, 2006

3

Multiple renal cysts, ear anomalies, disordered hair growth and unusual facies: a new entity?

McCann, Emma, Sweeney, Elizabeth, Daly, Janette

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 165 KB

english, 2006

4

Genitourinary malformations as a feature of the Pallister???Hall syndrome

McCann, Emma, Fryer, Alan E., Craigie, Ross, Baillie, Colin, Ba???ath, Muhammed E., Selby, Andrew, Biesecker, Leslie G.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 225 KB

english, 2006

5

Pitt???Hopkins syndrome in two patients and further definition of the phenotype

Peippo, Maarit M., Simola, Kalle O.J., Valanne, Leena K., Larsen, Andreo T., K??hk??nen, Marketta, Auranen, Mari P., Ignatius, Jaakko

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 498 KB

english, 2006

6

Pfeiffer-type cardiocranial syndrome: a patient with features of this condition and with an unbalanced subtelomeric rearrangement involving chromosomes 1p and 17q

McCann, Emma, Sweeney, Elizabeth, Sills, John, May, Paul, Smith, Sarah

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 170 KB

english, 2006

7

Bilateral microtia with severe cardiac defect: a new syndrome, or a severe manifestation of the oculoauriculovertebral spectrum?

McKee, Shane, Mabrouk, Rheem, Bali, Sanjeev

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 178 KB

english, 2006

8

Further delineation of acro-renal-mandibular syndrome

Phadke, Shubha R., Manisha,

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

9

Monosomy 5p and trisomy 12p in a boy with familial balanced translocation

Vasudevan, Pradeep C., Parker, Michael J.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 178 KB

english, 2006

10

A case of Beare???Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype

McGaughran, Julie, Sinnott, Stephen, Susman, Rachel, Buckley, Michael F., Elakis, George, Cox, Timothy, Roscioli, Tony

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 154 KB

english, 2006

11

Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome?

Goossens, Linde, Janssens, Sandra, Meersschaut, Valerie, Peeters, Hilde, Devlieger, Hugo, Devriendt, Koen

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 327 KB

english, 2006

12

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

Vergara, Pasquale, Digilio, Maria Cristina, Zorzi, Andrea De, Carlo, Duccio Di, Capolino, Rossella, Rimini, Alessandro, Pelegrini, Monica, Calabro`, Raffaele, Marino, Bruno

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

13

3-M syndrome: a report of three Egyptian cases with review of the literature

Temtamy, Samia A., Aglan, Mona S., Ashour, Adel M., Ramzy, Magda I., Hosny, Laila A., Mostafa, Mostafa I.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 641 KB

english, 2006

14

Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?

Tanteles, George A., Kurup, Beena, Rauch, Anita, Splitt, Miranda P.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 144 KB

english, 2006

15

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability

Snape, Katie M.G., Fahey, Michael C., McGillivray, George, Gupta, Prateek, Milewicz, Dianna M., Delatycki, Martin B.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 121 KB

english, 2006

16

Visual impairment and prolonged survival in a girl with Marshall???Smith syndrome

Deshpande, Charulata, Forrest, Michael, Russell-Eggitt, Isabelle, Hall, Christine M., Mehta, Ramesh, Paterson, Joan

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 126 KB

english, 2006

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