Volume 22; Issue 1

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Clinical Dysmorphology
Volume 22; Issue 1

Clinical Dysmorphology

Volume 22; Issue 1

1

Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies

Guala, Andrea, Massa, Paolo, Foscolo, Anna Maria, Olivero, Fabrizio, Van Maldergem, Lionel, Danesino, Cesare

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 271 KB

english, 2013

2

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome

Kuburović, Vladimir, Marshall, Jan D., Collin, Gayle B., Nykamp, Keith, Kuburović, Nina, Milenković, Tatjana, Rakić, Sanja, Djuric, Milena, Ječmenica, Jovana, Milenković, Svetislav, Naggert, Jürgen K.

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 541 KB

english, 2013

3

Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome

van den Ende, Jenneke J., Borra, Vere, Van Hul, Wim

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 365 KB

english, 2013

4

Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft

Journal:

Clinical Dysmorphology

Year:

2013

File:

PDF, 62 KB

2013

5

2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia

Bermudez-Wagner, Karla, Jeng, Linda J.B., Slavotinek, Anne M., Sanford, Erica F.

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 219 KB

english, 2013

6

Situs inversus totalis and congenital hypoglossia associated with atrial ectopic bradycardia and normal neurodevelopmental outcome

McLaren, Laura B., Mactier, Helen, Tolmie, John

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 180 KB

english, 2013

7

A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia

Gezdirici, Alper, Yenigun, Alper, Koparir, Erkan, Yosunkaya, Elif, Ulucan, Hakan, Seven, Mehmet, Yuksel, Adnan, Ozen, Mustafa

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 232 KB

english, 2013

8

Brachytelephalangic chondrodysplasia punctata

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 67 KB

english, 2013

9

Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy

Al-Semari, Abdulaziz, Wakil, Salma M., Al-Muhaizea, Mohammad A., Dababo, Mohammed, Al-Amr, Rana, Alkuraya, Fowzan, Meyer, Brian F.

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 440 KB

english, 2013

10

Sporadic NF1 mutation associated with a de-novo 20q11.3 deletion explains the association of unusual facies, Moyamoya vasculopathy, and developmental delay, reported by Bertoli et al. in 2009

Santoro, Claudia, Malan, Valérie, Bertoli, Marta, Boddaert, Nathalie, Vidaud, Dominique, Lyonnet, Stanislas

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 205 KB

english, 2013

11

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia

Al-Hashmi, Nadia, Imtiaz, Faiqa, Ramzan, Khushnooda, Faden, Maha, Shuaib, Taghreed, Al-Otaibi, Lefian, Al-Hemidan, Amal, Al-Owain, Mohammed

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 296 KB

english, 2013

12

Congenital megalourethra in monochorionic twins

van der Merwe, Johannes L., Rademan, Kerry, Geerts, Lut, Schubert, Pawel

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 268 KB

english, 2013

13

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3

Kuipers, Bart C.W., Vulto-van Silfhout, Anneke T., Marcelis, Carlo, Pfundt, Rolph, de Leeuw, Nicole, de Vries, Bert B.A.

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 337 KB

english, 2013

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