Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect Hadzsiev, Kinga; Gyorsok, Zsuzsanna; Till, Agnes; More Hadzsiev, Kinga; Gyorsok, Zsuzsanna; Till, Agnes; Czakó, Márta; Bartsch, Oliver Less Clinical Dysmorphology. 28(3):135-139, July 2019. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Open
Two cases of Temple–Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes Shen, Joseph J. Shen, Joseph J. Less Clinical Dysmorphology. 24(2):55-60, April 2015. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Open
Klippel-Feil syndrome: a review of the literature Frikha, Rim Frikha, Rim Less Clinical Dysmorphology. 29(1):35-37, January 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Expansion of phenotype of DDX3X syndrome: six new cases Beal, Bryony; Hayes, Ian; McGaughran, Julie; More Beal, Bryony; Hayes, Ian; McGaughran, Julie; Amor, David J.; Miteff, Christina; Jackson, Victoria; van Reyk, Olivia; Subramanian, Gopinath; Hildebrand, Michael S.; Morgan, Angela T.; Goel, Himanshu Less Clinical Dysmorphology. 28(4):169-174, October 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
Phenotypic delineation of a 12q21 deletion syndrome McKenna, Caoimhe S.; Saxena, Nivedita; Dabir, Tabib A; More McKenna, Caoimhe S.; Saxena, Nivedita; Dabir, Tabib A; Jones, June; Smith, Geoff; Morrison, Patrick J Less Clinical Dysmorphology. 28(4):198-201, October 2019. Favorites PDF Get Content & Permissions Buy
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report Wakeling, Emma L.; Dattani, Mehul T.; Bloch-Zupan, A.; More Wakeling, Emma L.; Dattani, Mehul T.; Bloch-Zupan, A.; Winter, Robin M.; Holder, Susan E. Less Clinical Dysmorphology. 12(2):105-107, April 2003. Abstract Abstract Favorites PDF Get Content & Permissions Buy
De novo Xq21.31–q21.32 duplication in intellectual disability: a new report Cianci, Paola; Agosti, Massimo; Modena, Piergiorgio; More Cianci, Paola; Agosti, Massimo; Modena, Piergiorgio; Selicorni, Angelo Less Clinical Dysmorphology. 28(2):98-100, April 2019. Favorites PDF Get Content & Permissions Buy
Phenotypic variability in Muenke syndrome-observations from five Danish families: Erratum Less Clinical Dysmorphology. 29(2):121, April 2020. Favorites PDF Get Content & Permissions Free
Chondrodysplasia punctata: a clinical diagnostic and radiological review Irving, Melita D.; Chitty, Lyn S.; Mansour, Sahar; More Irving, Melita D.; Chitty, Lyn S.; Mansour, Sahar; Hall, Christine M. Less Clinical Dysmorphology. 17(4):229-241, October 2008. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Mutation of PACS1: the milder end of the spectrum Martinez-Monseny, Antonio; Bolasell, Mercè; Arjona, Cesar; More Martinez-Monseny, Antonio; Bolasell, Mercè; Arjona, Cesar; Martorell, Loreto; Yubero, Delia; Arsmtrong, Judith; Maynou, Joan; Fernandez, Guerau; del Carmen Salgado, Maria; Palau, Francesc; Serrano, Mercedes Less Clinical Dysmorphology. 27(4):148-150, October 2018. Favorites PDF Get Content & Permissions Buy
Situs inversus totalis and congenital hypoglossia associated with atrial ectopic bradycardia and normal neurodevelopmental outcome McLaren, Laura B.; Mactier, Helen; Tolmie, John McLaren, Laura B.; Mactier, Helen; Tolmie, John Less Clinical Dysmorphology. 22(1):36-38, January 2013. Favorites PDF Get Content & Permissions Free
Distal trisomy 10q syndrome: phenotypic features in a child with inverted duplicated 10q25.1–q26.3 Carter, Melissa T.; Dyack, Sarah; Richer, Julie Carter, Melissa T.; Dyack, Sarah; Richer, Julie Less Clinical Dysmorphology. 19(3):140-145, July 2010. Favorites PDF Get Content & Permissions Buy
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.; More Bermudez-Wagner, Karla; Jeng, Linda J.B.; Slavotinek, Anne M.; Sanford, Erica F. Less Clinical Dysmorphology. 22(1):22-24, January 2013. Favorites PDF Get Content & Permissions Free
RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature Thompson, Danielle; Patrick-Esteve, Jessica; Surcouf, Jeffrey W.; More Thompson, Danielle; Patrick-Esteve, Jessica; Surcouf, Jeffrey W.; Rivera, Dana; Castellanos, Bianca; Desai, Pooja; Lilje, Christian; Lacassie, Yves; Marble, Michael; Zambrano, Regina Less Clinical Dysmorphology. 26(4):195-199, October 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature Lim, Jiin Ying; Bhatia, Neha Singh; Vasanwala, Rashida Farhad; More Lim, Jiin Ying; Bhatia, Neha Singh; Vasanwala, Rashida Farhad; Chay, Pui Ling; Lim, Kevin Boon Leong; Khoo, Poh Choo; Schwarze, Ulrike; Jamuar, Saumya Shekhar Less Clinical Dysmorphology. 28(3):118-123, July 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1 Krøigård, Anne B.; Jackson, Andrew P.; Bicknell, Louise S.; More Krøigård, Anne B.; Jackson, Andrew P.; Bicknell, Louise S.; Baple, Emma; Brusgaard, Klaus; Hansen, Lars K.; Ousager, Lilian B. Less Clinical Dysmorphology. 25(2):68-72, April 2016. Favorites PDF Get Content & Permissions Open
Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation Knauer-Fischer, Sabine A.; Richter-Unruh, Annette; Albrecht, Beate; More Knauer-Fischer, Sabine A.; Richter-Unruh, Annette; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; Hauffa, Berthold P. Less Clinical Dysmorphology. 13(3):183-186, July 2004. Abstract Abstract Favorites PDF Get Content & Permissions Buy
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss Henn, Alina; Weng, Harald; Novak, Simon; More Henn, Alina; Weng, Harald; Novak, Simon; Rettenberger, Günther; Gerhardinger, Andreas; Rossier, Eva; Zirn, Birgit Less Clinical Dysmorphology. 27(2):27-30, April 2018. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy Kuroda, Yukiko; Mizuno, Yoko; Mimaki, Masakazu; More Kuroda, Yukiko; Mizuno, Yoko; Mimaki, Masakazu; Oka, Akira; Sato, Yusuke; Ogawa, Seishi; Kurosawa, Kenji Less Clinical Dysmorphology. 26(4):224-227, October 2017. Favorites PDF Get Content & Permissions Buy
Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome Alomari, Ahmad I. Alomari, Ahmad I. Less Clinical Dysmorphology. 18(1):1-7, January 2009. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1 Sumathipala, Dulika S.; Misceo, Doriana; Larsen, Selma Mujezinovic; More Sumathipala, Dulika S.; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H.; Frengen, Eirik; Strømme, Petter Less Clinical Dysmorphology. 29(2):107-110, April 2020. Favorites PDF Get Content & Permissions Buy
Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants Lam, Zena; Albaba, Shadi; Study, DDD; More Lam, Zena; Albaba, Shadi; Study, DDD; Balasubramanian, Meena Less Clinical Dysmorphology. 29(1):10-16, January 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Dental findings in 14q terminal deletion syndrome Mendelsohn, Bryce A.; Jeng, Linda L.B.; Oberoi, Snehlata; More Mendelsohn, Bryce A.; Jeng, Linda L.B.; Oberoi, Snehlata; Klein, Ophir D. Less Clinical Dysmorphology. 23(2):60-62, April 2014. Favorites PDF Get Content & Permissions Buy
Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome Atli, Engin; Gurkan, Hakan; Ulusal, Selma; More Atli, Engin; Gurkan, Hakan; Ulusal, Selma; Karal, Yasemin; Atli, Emine I.; Tozkir, Hilmi Less Clinical Dysmorphology. 27(1):1-3, January 2018. Favorites PDF Get Content & Permissions Buy
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome Tanteles, George A.; Nicolaou, Nayia; Syrimis, Andreas; More Tanteles, George A.; Nicolaou, Nayia; Syrimis, Andreas; Metaxa, Rafaella; Nicolaou, Michael; Christophidou-Anastasiadou, Violetta; Skordis, Nicos Less Clinical Dysmorphology. 26(2):61-65, April 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review Zhang, Kaihui; Meng, Chen; Ma, Jing; More Zhang, Kaihui; Meng, Chen; Ma, Jing; Gao, Min; Lv, Yuqiang; Liu, Yi; Gai, Zhongtao Less Clinical Dysmorphology. 26(3):135-141, July 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis Bartels, Enrika; Schulz, Anna C.; Mora, Nicole W.; More Bartels, Enrika; Schulz, Anna C.; Mora, Nicole W.; Pineda-Alvarez, Daniel E.; Wijers, Charlotte H. W.; Marcelis, Carlo M.; Stressig, Rüdiger; Ritgen, Jochen; Schmiedeke, Eberhard; Mattheisen, Manuel; Draaken, Markus; Hoffmann, Per; Hilger, Alina C.; Dworschak, Gabriel C.; Baudisch, Friederike; Ludwig, Michael; Bagci, Soyhan; Müller, Andreas; Gembruch, Ulrich; Geipel, Annegret; Berg, Christoph; Bartmann, Peter; Nöthen, Markus M.; van Rooij, Iris A.L.M.; Solomon, Benjamin D.; Reutter, Heiko M. Less Clinical Dysmorphology. 21(4):191-195, October 2012. Abstract Abstract Favorites PDF Get Content & Permissions Buy
STAR syndrome: a further case and the first report of maternal mosaicism Lefroy, Henrietta; Hurst, Jane A.; Shears, Deborah J. Lefroy, Henrietta; Hurst, Jane A.; Shears, Deborah J. Less Clinical Dysmorphology. 26(3):157-160, July 2017. Favorites PDF Get Content & Permissions Buy
Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia Steel, Edward; Hurst, Jane A; Cullup, Thomas; More Steel, Edward; Hurst, Jane A; Cullup, Thomas; Calder, Alistair; Sivakumar, Branavan; Shah, Pratik; Wilson, Louise C Less Clinical Dysmorphology. 29(2):73-80, April 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Relatively mild phenotype in a patient with interstitial 6q24.3–q25.2 deletion Tanteles, George A.; Yates, Katherine; Martin, Kate; More Tanteles, George A.; Yates, Katherine; Martin, Kate; Suri, Mohnish Less Clinical Dysmorphology. 16(2):101-104, April 2007. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Fibular hemimelia with polysyndactyly: a case report Kulkarni, Ketan P.; Panigrahi, Inusha Kulkarni, Ketan P.; Panigrahi, Inusha Less Clinical Dysmorphology. 19(2):88-90, April 2010. Favorites PDF Get Content & Permissions Buy
Teebi hypertelorism syndrome Koenig, Rainer Koenig, Rainer Less Clinical Dysmorphology. 12(3):187-189, July 2003. Favorites PDF Get Content & Permissions Buy
Inherited duplication of the short arm of chromosome 18p11.32–p11.31 associated with developmental delay/intellectual disability Balasubramanian, Meena; Sithambaram, Sivagamy; Smith, Kath Balasubramanian, Meena; Sithambaram, Sivagamy; Smith, Kath Less Clinical Dysmorphology. 25(1):19-22, January 2016. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype Narayanan, Dhanya Lakshmi; Ranganath, Prajnya; Balakrishnan, Surya; More Narayanan, Dhanya Lakshmi; Ranganath, Prajnya; Balakrishnan, Surya; Dalal, Ashwin Less Clinical Dysmorphology. 28(4):202-204, October 2019. Favorites PDF Get Content & Permissions Buy
Two adjacent microdeletions in 8q11.2 cause a phenotype suggestive of the 22q11 deletion syndrome Ockeloen, Charlotte W.; de Leeuw, Nicole; Mieloo, Hanneke; More Ockeloen, Charlotte W.; de Leeuw, Nicole; Mieloo, Hanneke; Reijnen, Ineke G.M.; de Vries, Bert B.A. Less Clinical Dysmorphology. 19(3):137-139, July 2010. Favorites PDF Get Content & Permissions Buy
Xq25 microduplication syndrome: a further contribution to its definition. A case report and review of the literature Turchi, Giulia; Bernardo, Pia; Consales, Alessandro; More Turchi, Giulia; Bernardo, Pia; Consales, Alessandro; Bilo, Leonilda; Coppola, Antonietta Less Clinical Dysmorphology. 29(2):90-96, April 2020. Favorites PDF Get Content & Permissions Buy
Clinical course over five decades of a woman carrying 16p13.3 microduplication Pibalyart, Sarunpong; Trachoo, Objoon Pibalyart, Sarunpong; Trachoo, Objoon Less Clinical Dysmorphology. 26(4):217-220, October 2017. Favorites PDF Get Content & Permissions Buy
Clinical report: inherited deletion of chromosome 12q21.31q21.32 associated with a distinct phenotype and intellectual disability Akilapa, Rhoda S.; Smith, Kath; Balasubramanian, Meena Akilapa, Rhoda S.; Smith, Kath; Balasubramanian, Meena Less Clinical Dysmorphology. 24(4):151-155, October 2015. Favorites PDF Get Content & Permissions Buy
Further delineation of DDX3X syndrome Chanes, Nicolas M.; Wong, Joaquin; Lacassie, Yves Chanes, Nicolas M.; Wong, Joaquin; Lacassie, Yves Less Clinical Dysmorphology. 28(3):149-151, July 2019. Favorites PDF Get Content & Permissions Buy
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; More Kuipers, Bart C.W.; Vulto-van Silfhout, Anneke T.; Marcelis, Carlo; Pfundt, Rolph; de Leeuw, Nicole; de Vries, Bert B.A. Less Clinical Dysmorphology. 22(1):18-21, January 2013. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Free
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa Rehman, Atta Ur; Peter, Virginie G.; Quinodoz, Mathieu; More Rehman, Atta Ur; Peter, Virginie G.; Quinodoz, Mathieu; Dawood, Muhammad; Rivolta, Carlo Less Clinical Dysmorphology. 29(2):86-89, April 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia Lord, Steven V.; Jimenez, Joaquin E.; Kroeger, Zachary A.; More Lord, Steven V.; Jimenez, Joaquin E.; Kroeger, Zachary A.; Patrick, Cory S.; Sanchez-Pena, Isalis; Ziga, Edward; Bademci, Guney; Tekin, Mustafa Less Clinical Dysmorphology. 27(1):9-11, January 2018. Favorites PDF Get Content & Permissions Buy
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children Yu, Kris P.T.; Luk, Ho-Ming; Gordon, Christopher T.; More Yu, Kris P.T.; Luk, Ho-Ming; Gordon, Christopher T.; Fung, Genevieve; Oufadem, Myriam; Garcia-Barcelo, Maria M.; Amiel, Jeanne; Chung, Brian H.Y.; Lo, Ivan F.M.; Tiong, Yang Tan Less Clinical Dysmorphology. 27(2):31-35, April 2018. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis Kulkarni, Nainesha; Lloyd, Ian C.; Ashworth, Jane; More Kulkarni, Nainesha; Lloyd, Ian C.; Ashworth, Jane; Biswas, Susmito; Black, Graeme C.M.; Clayton-Smith, Jill; NIHR BioResource Consortium Less Clinical Dysmorphology. 28(4):184-189, October 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Haploinsufficiency of AKT3 gene causing microcephaly and psychomotor delay in a patient with 1q43q44 microdeletion Pelle, Alessandra; Modena, Piergiorgio; Cavallini, Anna; More Pelle, Alessandra; Modena, Piergiorgio; Cavallini, Anna; Selicorni, Angelo Less Clinical Dysmorphology. 29(2):97-100, April 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family Tekedereli, Ibrahim; Demiral, Emine; Gokce, Ismail K.; More Tekedereli, Ibrahim; Demiral, Emine; Gokce, Ismail K.; Esener, Zeynep; Camtosun, Emine; Akinci, Aysehan Less Clinical Dysmorphology. 28(2):63-65, April 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency Alessandri, Jean-Luc Dominique; Ramful, Duksha; Cuillier, Fabrice Alessandri, Jean-Luc Dominique; Ramful, Duksha; Cuillier, Fabrice Less Clinical Dysmorphology. 19(2):85-87, April 2010. Favorites PDF Get Content & Permissions Buy
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype Andoni, Tala; Ellard, Sian; Kapadia, Jogesh; More Andoni, Tala; Ellard, Sian; Kapadia, Jogesh; Wakeling, Emma Less Clinical Dysmorphology. 29(2):114-117, April 2020. Favorites PDF Get Content & Permissions Buy
A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype–phenotype correlation Lallar, Meenakshi; Srivastava, Priyanka; Phadke, Shubha R. Lallar, Meenakshi; Srivastava, Priyanka; Phadke, Shubha R. Less Clinical Dysmorphology. 27(4):142-144, October 2018. Favorites PDF Get Content & Permissions Buy
Omphalocele in a patient with Noonan syndrome Longoni, Laura; D’Apolito, Valeria; Cianci, Paola; More Longoni, Laura; D’Apolito, Valeria; Cianci, Paola; Selicorni, Angelo Less Clinical Dysmorphology. 21(4):215-217, October 2012. Favorites PDF Get Content & Permissions Buy
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene Jurkiewicz, Dorota; Skórka, Agata; Ciara, Elzbieta; More Jurkiewicz, Dorota; Skórka, Agata; Ciara, Elzbieta; Kugaudo, Monika; Pelc, Magdalena; Chrzanowska, Krystyna; Krajewska-Walasek, Malgorzata Less Clinical Dysmorphology. 29(1):28-34, January 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A newborn diagnosed with van Maldergem syndrome Ulubas Isik, Dilek; Unal, Sezin; Erol, Sara; More Ulubas Isik, Dilek; Unal, Sezin; Erol, Sara; Arslan, Zehra; Bas, Ahmet Y.; Demirel, Nihal Less Clinical Dysmorphology. 27(2):63-65, April 2018. Favorites PDF Get Content & Permissions Buy
Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature Natera-de Benito, Daniel; Fons, Carmen; Ulate-Campos, Adriana; More Natera-de Benito, Daniel; Fons, Carmen; Ulate-Campos, Adriana; Martorell, Loreto; Póo, Pilar Less Clinical Dysmorphology. 24(1):38-43, January 2015. Favorites PDF Get Content & Permissions Buy
Temple syndrome misdiagnosed as Silver–Russell syndrome Luk, Ho-Ming Luk, Ho-Ming Less Clinical Dysmorphology. 25(2):82-83, April 2016. Favorites PDF Get Content & Permissions Buy
A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia Menzies, Lara; Cullup, Tom; Calder, Alistair; More Menzies, Lara; Cullup, Tom; Calder, Alistair; Wilson, Louise; Faravelli, Francesca Less Clinical Dysmorphology. 28(4):219-223, October 2019. Favorites PDF Get Content & Permissions Buy
Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients Roessler, Helen I.; Volker-Touw, Catharina M.L.; Terhal, Paulien A.; More Roessler, Helen I.; Volker-Touw, Catharina M.L.; Terhal, Paulien A.; van Haaften, Gijs; van Haelst, Mieke M. Less Clinical Dysmorphology. 27(3):78-83, July 2018. Favorites PDF Get Content & Permissions Buy
Beaulieu–Boycott–Innes syndrome: an intellectual disability syndrome with characteristic facies Casey, Jillian; Jenkinson, Allan; Magee, Alex; More Casey, Jillian; Jenkinson, Allan; Magee, Alex; Ennis, Sean; Monavari, Ahmad; Green, Andrew; Lynch, Sally A.; Crushell, Ellen; Hughes, Joanne Less Clinical Dysmorphology. 25(4):146-151, October 2016. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype Jezela-Stanek, Aleksandra; Murcia, Pienkowski Victor; Jurkiewicz, Dorota; More Jezela-Stanek, Aleksandra; Murcia, Pienkowski Victor; Jurkiewicz, Dorota; Iwanicka-Pronicka, Katarzyna; Jedrzejowska, Maria; Krajewska-Walasek, Malgorzata; Ploski, Rafal Less Clinical Dysmorphology. 28(3):124-128, July 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Sudden death in a patient with mosaic ring X Turner syndrome and a neuronal migration disorder Longman, Cheryl; MacKenzie, James; Rankin, Rosslyn; More Longman, Cheryl; MacKenzie, James; Rankin, Rosslyn; McEntagart, Meriel; Johnson, Richard; Al-Hilaly, Nasser; Atkinson, Patricia Less Clinical Dysmorphology. 17(1):69-71, January 2008. Favorites PDF Get Content & Permissions Buy
Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum Khan, Aleena Arij; Kirmani, Salman Khan, Aleena Arij; Kirmani, Salman Less Clinical Dysmorphology. 29(2):111-113, April 2020. Favorites PDF Get Content & Permissions Buy
The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported Fukuhara, Yasuyuki; Cho, Sung Y.; Miyazaki, Osamu; More Fukuhara, Yasuyuki; Cho, Sung Y.; Miyazaki, Osamu; Hattori, Atsushi; Seo, Joo-Hyun; Mashima, Ryuichi; Kosuga, Motomichi; Fukami, Maki; Jin, Dong-Kyu; Okuyama, Torayuki; Nishimura, Gen Less Clinical Dysmorphology. 28(1):26-29, January 2019. Favorites PDF Get Content & Permissions Open
A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review Duz, Mehmet B.; Kirat, Emre; Coucke, Paul J.; More Duz, Mehmet B.; Kirat, Emre; Coucke, Paul J.; Koparir, Erkan; Gezdirici, Alper; Paepe, Anne De; Callewaert, Bert; Seven, Mehmet Less Clinical Dysmorphology. 26(3):142-147, July 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy Papa, Filomena T.; Mancardi, Maria M.; Frullanti, Elisa; More Papa, Filomena T.; Mancardi, Maria M.; Frullanti, Elisa; Fallerini, Chiara; Della Chiara, Veronica; Zalba-Jadraque, Laura; Baldassarri, Margherita; Gamucci, Alessandra; Mari, Francesca; Veneselli, Edvige; Renieri, Alessandra Less Clinical Dysmorphology. 27(1):18-20, January 2018. Favorites PDF Get Content & Permissions Buy
A new case of Myhre syndrome Whiteford, M. L.; Doig, W. B.; Raine, P. A. M.; More Whiteford, M. L.; Doig, W. B.; Raine, P. A. M.; Hollman, A. S.; Tolmie, J. L. Less Clinical Dysmorphology. 10(2):135-140, April 2001. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene Matuszewska, Karolina E.; Badura-Stronka, Magdalena; Smigiel, Robert; More Matuszewska, Karolina E.; Badura-Stronka, Magdalena; Smigiel, Robert; Cabala, Magdalena; Biernacka, Anna; Kosinska, Joanna; Rydzanicz, Malgorzata; Winczewska-Wiktor, Anna; Sasiadek, Maria; Latos-Bielenska, Anna; Zemojtel, Tomasz; Ploski, Rafal Less Clinical Dysmorphology. 27(2):49-52, April 2018. Favorites PDF Get Content & Permissions Buy
Phenotypic variability in Muenke syndrome—observations from five Danish families Öwall, Louise; Kreiborg, Sven; Dunø, Morten; More Öwall, Louise; Kreiborg, Sven; Dunø, Morten; Hermann, Nuno V.; Darvann, Tron A.; Hove, Hanne Less Clinical Dysmorphology. 29(1):1-9, January 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy Erratum
Three siblings with Woodhouse–Sakati syndrome in an Indian family Koshy, George; Danda, Sumita; Thomas, Nihal; More Koshy, George; Danda, Sumita; Thomas, Nihal; Mathews, Vikram; Viswanathan, Vijay Less Clinical Dysmorphology. 17(1):57-60, January 2008. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene Sharma, Pankaj; Gambhir, Poonam S.; Phadke, Shubha R.; More Sharma, Pankaj; Gambhir, Poonam S.; Phadke, Shubha R.; Mandal, Kausik Less Clinical Dysmorphology. 28(2):94-97, April 2019. Favorites PDF Get Content & Permissions Buy
Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1 Jewell, Rosalyn; Sarkar, Ajoy; Jones, Rebecca; More Jewell, Rosalyn; Sarkar, Ajoy; Jones, Rebecca; Wilkinson, Ashley; Martin, Kate; Arundel, Paul; Balasubramanian, Meena Less Clinical Dysmorphology. 26(4):228-230, October 2017. Favorites PDF Get Content & Permissions Buy
Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome Cianci, Paola; Pezzoli, Laura; Maitz, Silvia; More Cianci, Paola; Pezzoli, Laura; Maitz, Silvia; Agosti, Massimo; Iascone, Maria; Selicorni, Angelo Less Clinical Dysmorphology. 29(2):101-103, April 2020. Favorites PDF Get Content & Permissions Buy
A rare case of split hand/foot malformation with sensorineural hearing loss and Mondini dysplasia Gezdirici, Alper; Yenigun, Alper; Koparir, Erkan; More Gezdirici, Alper; Yenigun, Alper; Koparir, Erkan; Yosunkaya, Elif; Ulucan, Hakan; Seven, Mehmet; Yuksel, Adnan; Ozen, Mustafa Less Clinical Dysmorphology. 22(1):33-35, January 2013. Favorites PDF Get Content & Permissions Free
Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case Suri, Mohnish; Garrett, C.; Winter, R.M.; More Suri, Mohnish; Garrett, C.; Winter, R.M.; Hall, C.M.; Griffiths, M. Less Clinical Dysmorphology. 11(4):267-270, October 2002. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome Xiong, Shiyi; Chitayat, David; Wei, Xing; More Xiong, Shiyi; Chitayat, David; Wei, Xing; Zhu, Jialiang; Lu, Wen; Sun, Lu ming; Chopra, Maya Less Clinical Dysmorphology. 25(4):186-189, October 2016. Favorites PDF Get Content & Permissions Buy
Guadalajara camptodactyly type III: a new probably autosomal dominant syndrome Figuera, L.E.; Ramírez-Dueñas, M.L.; Dávalos, I.P.; More Figuera, L.E.; Ramírez-Dueñas, M.L.; Dávalos, I.P.; Cantú, J.M. Less Clinical Dysmorphology. 11(4):243-247, October 2002. Abstract Abstract Favorites PDF Get Content & Permissions Buy
TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome Si-Min Ng, Pamela; Khan, Shazia; Lim, Jiin Ying; More Si-Min Ng, Pamela; Khan, Shazia; Lim, Jiin Ying; Chew-Yin Goh, Jasmine; Lin, Grace Xiulin; Wei, Heming; Tan, Ene Choo; Jamuar, Saumya Shekhar Less Clinical Dysmorphology. 28(4):215-218, October 2019. Favorites PDF Get Content & Permissions Buy
Noonan syndrome and systemic lupus erythematosus: presentation in childhood Alanay, Yasemin; Balc, Sevim; Ozen, Seza Alanay, Yasemin; Balc, Sevim; Ozen, Seza Less Clinical Dysmorphology. 13(3):161-163, July 2004. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Association of microcephaly and café-au-lait spots in a patient with ring chromosome 12 syndrome Zen, P.R.G.; Pinto, L.L.C.; Graziadio, C.; More Zen, P.R.G.; Pinto, L.L.C.; Graziadio, C.; Pereira, V.B.; Paskulin, G.A. Less Clinical Dysmorphology. 14(3):141-143, July 2005. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Osteocraniostenosis in a fetus with a 46,XX/46,XY karyotype Brennan, Paul; Hall, Christine Brennan, Paul; Hall, Christine Less Clinical Dysmorphology. 11(1):57-61, January 2002. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Interstitial 3p25 deletion in a patient with features of 3p deletion syndrome: further evidence for the role of SRGAP3 in mental retardation Ellery, Peter M.; Ellis, Richard J.; Holder, Susan E. Ellery, Peter M.; Ellis, Richard J.; Holder, Susan E. Less Clinical Dysmorphology. 23(1):29-31, January 2014. Favorites PDF Get Content & Permissions Buy
A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature Riccardi, Florence; Urquhart, Jill; McCullagh, Gary; More Riccardi, Florence; Urquhart, Jill; McCullagh, Gary; Lawrence, Peter; Douzgou, Sofia Less Clinical Dysmorphology. 28(2):66-70, April 2019. Favorites PDF Get Content & Permissions Buy SDC
Intrafamilial variability of clinical features in distal arthrogryposis type 2B de Burca, Anna; Ioannou, Christos; Vandersteen, Anthony; More de Burca, Anna; Ioannou, Christos; Vandersteen, Anthony; Pope, Francis M.; Cilliers, Deirdre D. Less Clinical Dysmorphology. 28(1):35-37, January 2019. Favorites PDF Get Content & Permissions Buy
A novel mutation in two families with pycnodysostosis Ozdemir, Taha R.; Atik, Tahir; Karaca, Emin; More Ozdemir, Taha R.; Atik, Tahir; Karaca, Emin; Onay, Huseyin; Ozkinay, Ferda; Cogulu, Ozgur Less Clinical Dysmorphology. 22(3):102-105, July 2013. Favorites PDF Get Content & Permissions Buy
Smith-Magenis syndrome and cyanotic congenital heart disease: a case report Wong, Janice Tzen-Yuen; Chan, Daisy Kwai-Lin; Wong, Keng-Yean; More Wong, Janice Tzen-Yuen; Chan, Daisy Kwai-Lin; Wong, Keng-Yean; Tan, Mary; Rudduck, Christina; Tien, Sim-Leng Less Clinical Dysmorphology. 12(1):73-74, January 2003. Abstract Abstract Favorites PDF Get Content & Permissions Buy
De novoSETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia Rawlins, Lettie E.; Stals, Karen L.; Eason, Julian D.; More Rawlins, Lettie E.; Stals, Karen L.; Eason, Julian D.; Turnpenny, Peter D. Less Clinical Dysmorphology. 26(2):95-97, April 2017. Favorites PDF Get Content & Permissions Buy
Chromosome Y polysomy: a non-mosaic 49,XYYYY case Paoloni-Giacobino, Ariane; Lespinasse, James Paoloni-Giacobino, Ariane; Lespinasse, James Less Clinical Dysmorphology. 16(1):65-66, January 2007. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype Bownass, Lucy; Lunt, Peter; Williams, Cathy; More Bownass, Lucy; Lunt, Peter; Williams, Cathy; Woodbridge, Tamsin; Ellis, Matthew; Scurr, Ingrid Less Clinical Dysmorphology. 23(2):63-66, April 2014. Favorites PDF Get Content & Permissions Buy
Phenotypic overlap in Melnick–Needles, serpentine fibula–polycystic kidney and Hajdu–Cheney syndromes: a clinical and molecular study in three patients Albano, Lilian M.J.; Bertola, Débora R.; Barba, Mário F.; More Albano, Lilian M.J.; Bertola, Débora R.; Barba, Mário F.; Valente, Marcelo; Robertson, Stephen P.; Kim, Chong A. Less Clinical Dysmorphology. 16(1):27-33, January 2007. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations Girisha, Katta Mohan; Vasudevan, Thanvanthri Gururajan; Saadi, Abdul Vahab; More Girisha, Katta Mohan; Vasudevan, Thanvanthri Gururajan; Saadi, Abdul Vahab; Shah, Hitesh; Gopinath, Puthiya Mundyat; Satyamoorthy, Kapaettu Less Clinical Dysmorphology. 20(4):205-209, October 2011. Favorites PDF Get Content & Permissions Buy
Klippel-Feil anomaly in Fanconi anemia McGaughran, Julie McGaughran, Julie Less Clinical Dysmorphology. 12(3):197, July 2003. Favorites PDF Get Content & Permissions Buy
Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype Dalal, Ashwin; Mehrotra, Rabindera N. Dalal, Ashwin; Mehrotra, Rabindera N. Less Clinical Dysmorphology. 18(2):83-84, April 2009. Favorites PDF Get Content & Permissions Buy
The fetal mycophenolate mofetil syndrome Velinov, Milen; Zellers, Nancy Velinov, Milen; Zellers, Nancy Less Clinical Dysmorphology. 17(1):77-78, January 2008. Favorites PDF Get Content & Permissions Buy
A microduplication of the Rubinstein–Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation Tüysüz, Beyhan; van Bon, Bregje W.M.; Alp, Zeynep; More Tüysüz, Beyhan; van Bon, Bregje W.M.; Alp, Zeynep; Güzel, Zeki; Veltman, Joris A.; de Vries, Bert B.A. Less Clinical Dysmorphology. 21(4):204-207, October 2012. Favorites PDF Get Content & Permissions Buy
A novel COL1A1 mutation causing a variant of osteogenesis imperfecta McVey, Lindsey C.; Mason, Avril; Pollitt, Rebecca; More McVey, Lindsey C.; Mason, Avril; Pollitt, Rebecca; Ahmed, Syed Faisal; Kinning, Esther Less Clinical Dysmorphology. 26(4):243-246, October 2017. Favorites PDF Get Content & Permissions Buy
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients Portnoï, Marie-France; Gruchy, Nicolas; Marlin, Sandrine; More Portnoï, Marie-France; Gruchy, Nicolas; Marlin, Sandrine; Finkel, Lina; Denoyelle, Françoise; Dubourg, Christèle; Odent, Sylvie; Siffroi, Jean-Pierre; Le Bouc, Yves; Houang, Muriel Less Clinical Dysmorphology. 16(4):247-252, October 2007. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings Vianna, Fernanda S.L.; Schüler-Faccini, Lavínia; Leite, Julio César L.; More Vianna, Fernanda S.L.; Schüler-Faccini, Lavínia; Leite, Julio César L.; de Sousa, Silvia H.C.; da Costa, Lea Márcia M.; Dias, Murilo F.; Morelo, Elaine F.; Doriqui, Maria Juliana R.; Maximino, Claudia M.; Sanseverino, Maria Teresa V. Less Clinical Dysmorphology. 22(2):59-63, April 2013. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature Zherebtsov, Monica M.; Klein, Rachel T.; Aviv, Hana; More Zherebtsov, Monica M.; Klein, Rachel T.; Aviv, Hana; Toruner, Gokce A.; Hanna, Nazeeh N.; Brooks, Susan Sklower Less Clinical Dysmorphology. 16(3):135-140, July 2007. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D Rai, Archana; Puri, Ratna D.; Phadke, Shubha R. Rai, Archana; Puri, Ratna D.; Phadke, Shubha R. Less Clinical Dysmorphology. 27(4):130-134, October 2018. Favorites PDF Get Content & Permissions Buy
Shprintzen-Goldberg marfanoid syndrome: A case followed up for 24 years Stoll, C. Stoll, C. Less Clinical Dysmorphology. 11(1):1-7, January 2002. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Bowen-Conradi syndrome in non Hutterite infant Micheil Innes, A.; Brian Lowry, R. Micheil Innes, A.; Brian Lowry, R. Less Clinical Dysmorphology. 11(2):147-148, April 2002. Abstract Abstract Favorites PDF Get Content & Permissions Buy
GATAD2B-related intellectual disability due to parental mosaicism and review of literature Kaur, Parneet; Mishra, Shivani; Rajesh, Shimoga M.; More Kaur, Parneet; Mishra, Shivani; Rajesh, Shimoga M.; Girisha, Katta M.; Shukla, Anju Less Clinical Dysmorphology. 28(4):190-194, October 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
