Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype Gupta, Neerja; Ghosh, Manju; Shukla, Rashmi; More Gupta, Neerja; Ghosh, Manju; Shukla, Rashmi; Das, Ganesh Prasad; Kabra, Madhulika Less Clinical Dysmorphology. 21(3):113-117, July 2012. Abstract Abstract Favorite PDF Permissions Buy
Familial Williams–Beuren syndrome ascertained by screening rather than targeted diagnosis Rafati, Maryam; Seyyedaboutorabi, Elaheh; Brujerdi, Razieh; More Rafati, Maryam; Seyyedaboutorabi, Elaheh; Brujerdi, Razieh; Moossavi, Shirin; Ghaffari, Saeed Reza Less Clinical Dysmorphology. 21(3):118-123, July 2012. Abstract Abstract Favorite PDF Permissions Buy
Sirenomelia: four further cases with discussion of associated upper limb defects Moosa, Shahida; Lambie, Lindsay Ann; Krause, Amanda Moosa, Shahida; Lambie, Lindsay Ann; Krause, Amanda Less Clinical Dysmorphology. 21(3):124-130, July 2012. Abstract Abstract Favorite PDF Permissions Buy
Abraham Lincoln's marfanoid mother: the earliest known case of multiple endocrine neoplasia type 2B? Sotos, John G. Sotos, John G. Less Clinical Dysmorphology. 21(3):131-136, July 2012. Abstract Abstract Favorite PDF Permissions Buy
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson Palka, Chiara; Antonucci, Ivana; Alfonsi, Melissa; More Palka, Chiara; Antonucci, Ivana; Alfonsi, Melissa; Bedeschi, Maria Francesca; Mohn, Angelika; Lalatta, Faustina; Chiarelli, Francesco; Palka, Giandomenico; Stuppia, Liborio Less Clinical Dysmorphology. 21(3):137-140, July 2012. Favorite PDF Permissions Buy
Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft Low, Karen J.; Nwbury-Ecob, Ruth A. Low, Karen J.; Nwbury-Ecob, Ruth A. Less Clinical Dysmorphology. 21(3):141-143, July 2012. Favorite PDF Permissions Buy
Spondylocarpotarsal synostosis with hydromyelia, mega cisterna magna, and pachydermoperiostosis Assir, Muhammad Zaman Khan; Waseem, Tariq Assir, Muhammad Zaman Khan; Waseem, Tariq Less Clinical Dysmorphology. 21(3):144-147, July 2012. Favorite PDF Permissions Buy
Evidence for SHH as a candidate gene for encephalocele Bear, Kelly A.; Solomon, Benjamin D.; Roessler, Erich; More Bear, Kelly A.; Solomon, Benjamin D.; Roessler, Erich; Alvarez, Daniel E. Pineda; Kubendran, Shobana; O’Hara, Margaret; Muenke, Maximilian Less Clinical Dysmorphology. 21(3):148-151, July 2012. Favorite PDF Permissions Buy
Unusual neuroradiological features in Schinzel–Giedion syndrome: a novel case Lestner, Jodi Marianne; Chong, Wui K.; Offiiah, Amaka; More Lestner, Jodi Marianne; Chong, Wui K.; Offiiah, Amaka; Kefas, Jonathan; Vandersteen, Anthony M. Less Clinical Dysmorphology. 21(3):152-154, July 2012. Favorite PDF Permissions Buy
Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant Köstü, Murat; Tuncer, Oguz; Ceylaner, Serdar; More Köstü, Murat; Tuncer, Oguz; Ceylaner, Serdar; Çaksen, Hüseyin Less Clinical Dysmorphology. 21(3):155-156, July 2012. Favorite PDF Permissions Buy
Hypertelorism, radial ray defects, dextrocardia, hypoplastic ribs and renal anomaly: report of a second case and confirmation of the phenotype Fuchs, Gabriela E.; Suri, Mohnish; Dux, Anthony; More Fuchs, Gabriela E.; Suri, Mohnish; Dux, Anthony; Craft, Emily V.; Vasudevan, Pradeep C.; Tanteles, George A. Less Clinical Dysmorphology. 21(3):157-161, July 2012. Favorite PDF Permissions Buy
A familial case of Cantu craniofaciofronto digital syndrome Garcia-Gonzalez, Claudia Lorena; Garcia-Cruz, Diana; Garcia-Cruz, María Olga; More Garcia-Gonzalez, Claudia Lorena; Garcia-Cruz, Diana; Garcia-Cruz, María Olga; Castañeda-Cisneros, Gema; Garcia-Ortiz, Jose Elias; Orozco-Gutiérrez, Mario Humberto; Sanchez-Corona, Jose Less Clinical Dysmorphology. 21(3):162-166, July 2012. Favorite PDF Permissions Buy
A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism Smigiel, Robert; Barg, Ewa; Gabrysz, Maja; More Smigiel, Robert; Barg, Ewa; Gabrysz, Maja; Szpich, Elzbieta; Sasiadek, Marek; Sasiadek, Maria Less Clinical Dysmorphology. 21(3):167-169, July 2012. Favorite PDF Permissions Buy
One in 10 million: a case of cleidocranial dysplasia and acute lymphoblastic leukaemia – more than just a coincidence? Gardham, Alice; Forsythe, Elizabeth; Goulden, Nick Gardham, Alice; Forsythe, Elizabeth; Goulden, Nick Less Clinical Dysmorphology. 21(3):170-171, July 2012. Favorite PDF Permissions Buy
Array-based characterization of an interstitial de-novo deletion of chromosome 4q in a patient with a neuronal migration defect and hypocalcemia plus a literature review Moreno-García, Marta; Sánchez del Pozo, Jaime; Cruz-Rojo, Jaime; More Moreno-García, Marta; Sánchez del Pozo, Jaime; Cruz-Rojo, Jaime; Fernández-Martínez, Francisco Javier; Perez-Nanclares Leal, Guiomar Less Clinical Dysmorphology. 21(3):172-176, July 2012. Favorite PDF Permissions Buy
Diaphragmatic hernia: a previously unreported association with Sotos syndrome Searle, Claire; Bala, Pronab; Dobbie, Angus Searle, Claire; Bala, Pronab; Dobbie, Angus Less Clinical Dysmorphology. 21(3):177-178, July 2012. Favorite PDF Permissions Buy
A new nonsense mutation is associated with dysmorphism in lethal neonatal CPTII deficiency McGill, Jennifer S.; Evans, Margaret; Kirk, Jean M.; More McGill, Jennifer S.; Evans, Margaret; Kirk, Jean M.; Lam, Wayne; Munro, Michael; Becher, Julie-Clare Less Clinical Dysmorphology. 21(3):179-181, July 2012. Favorite PDF Permissions Buy
The association of polythelia with segmentation defects of the vertebrae Akin, Leyla; Akin, Mustafa Ali; Sarici, Dilek; More Akin, Leyla; Akin, Mustafa Ali; Sarici, Dilek; Yikilmaz, Ali; Efendioglu, Bedia; Kurtoglu, Selim Less Clinical Dysmorphology. 21(3):181-182, July 2012. Favorite PDF Permissions Buy
