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
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
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
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
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
Kabuki syndrome: a review study of three hundred patients Wessels, Marja W.; Brooks, Alice S.; Hoogeboom, Jeannette; More Wessels, Marja W.; Brooks, Alice S.; Hoogeboom, Jeannette; Niermeijer, Martinus F.; Willems, Patrick J. Less Clinical Dysmorphology. 11(2):95-102, April 2002. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature Upadhyai, Priyanka; Amiri, Eram Fatima; Guleria, Vishal Singh; More Upadhyai, Priyanka; Amiri, Eram Fatima; Guleria, Vishal Singh; Bielas, Stephanie L.; Girisha, Katta Mohan; Shukla, Anju Less Clinical Dysmorphology. 29(3):127-131, July 2020. Abstract Abstract 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
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
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
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
Mild phenotype of a large partial 13q trisomy Krygier, Magdalena; Lipska-Zietkiewicz, Beata S.; Koczkowska, Magdalena; More Krygier, Magdalena; Lipska-Zietkiewicz, Beata S.; Koczkowska, Magdalena; Wierzba, Jolanta; Limon, Janusz Less Clinical Dysmorphology. 23(4):155-157, October 2014. Favorites PDF Get Content & Permissions Buy
Oliver–McFarlane syndrome (chorioretinopathy–pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia–hypopituitarism Sonmez, Sibel; Forsyth, Robert J.; Matthews, Debbie S.F.; More Sonmez, Sibel; Forsyth, Robert J.; Matthews, Debbie S.F.; Clarke, Michael; Splitt, Miranda Less Clinical Dysmorphology. 17(4):265-267, October 2008. Favorites PDF Get Content & Permissions Buy
Clark–Baraitser syndrome: report of a new case and review of the literature Mendicino, Angela; Sabbadini, Guglielmo; Pergola, Mariano S. Mendicino, Angela; Sabbadini, Guglielmo; Pergola, Mariano S. Less Clinical Dysmorphology. 14(3):133-135, July 2005. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Polycystic kidney disease in neonate with acrorenal mandibular syndrome Sanganalmatha, Savithadevi G.; Hedne, Chandrasekhar R.; Hiremath, Shankar S.; More Sanganalmatha, Savithadevi G.; Hedne, Chandrasekhar R.; Hiremath, Shankar S.; Patil, Shankaragoud B.; Gaddadevaramat, Jyothiprakash B.; Doddikoppad, Mahadevappa M. Less Clinical Dysmorphology. 23(4):133-137, October 2014. Favorites PDF Get Content & Permissions Open
Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway Van De Maele, Karolien; Smulders, Charlotte; Ecury-Goossen, Ginette; More Van De Maele, Karolien; Smulders, Charlotte; Ecury-Goossen, Ginette; Rosina-Angelista, Irsa; Redeker, Egbert; van Haelst, Mieke Less Clinical Dysmorphology. 28(2):57-62, April 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series Panigrahi, Inusha; Angurana, Suresh Kumar; Varma, Harish; More Panigrahi, Inusha; Angurana, Suresh Kumar; Varma, Harish; Peyam Pandurangam, Srinivasan; Williams, Vijai; Thappa, Surjeet; Kaur, Anupriya; Khandelwal, Niranjan Less Clinical Dysmorphology. 28(3):101-111, July 2019. Abstract Abstract 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 male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS Fryssira, Helen; Papathanassiou, Miltiadis; Barbounaki, Joanna; More Fryssira, Helen; Papathanassiou, Miltiadis; Barbounaki, Joanna; Orfanou, Irene; Lagona, Evangelia; Paikos, Peter Less Clinical Dysmorphology. 11(4):277-281, October 2002. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families Radhakrishnan, Periyasamy; Jacob, Prince; Nayak, Shalini S.; More Radhakrishnan, Periyasamy; Jacob, Prince; Nayak, Shalini S.; Gowrishankar, Kalpana; Prakash Soni, Jai; Shukla, Anju; Girisha, Katta M. Less Clinical Dysmorphology. 29(3):123-126, July 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
A new case series of Crisponi syndrome in a Turkish family and review of the literature Bayraktar-Tanyeri, Bilge; Hepokur, Mervenur; Bayraktar, Suleyman; More Bayraktar-Tanyeri, Bilge; Hepokur, Mervenur; Bayraktar, Suleyman; Persico, Ivana; Crisponi, Laura Less Clinical Dysmorphology. 26(2):66-72, April 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Type 1 Arnold–Chiari malformation and Noonan syndrome. A new diagnostic feature? Holder-Espinasse, Muriel; Winter, Robin M. Holder-Espinasse, Muriel; Winter, Robin M. Less Clinical Dysmorphology. 12(4):275, October 2003. 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
Novel mutation in MASP1 gene in a new family with 3MC syndrome Basdemirci, Muserref; Sen, Askin; Ceylaner, Serdar Basdemirci, Muserref; Sen, Askin; Ceylaner, Serdar Less Clinical Dysmorphology. 28(2):91-93, April 2019. Favorites PDF Get Content & Permissions Buy
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I Mackenroth, Luisa; Rump, Andreas; Lorenz, Peter; More Mackenroth, Luisa; Rump, Andreas; Lorenz, Peter; Schröck, Evelin; Tzschach, Andreas Less Clinical Dysmorphology. 25(3):106-109, July 2016. Favorites PDF Get Content & Permissions Buy
Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability Kirat, Emre; Mutlu Albayrak, Hatice; Sahinoglu, Bahtiyar; More Kirat, Emre; Mutlu Albayrak, Hatice; Sahinoglu, Bahtiyar; Gurler, Abdullah Ihsan; Karaer, Kadri Less Clinical Dysmorphology. 29(3):137-140, July 2020. 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
A clinical report and further delineation of the 14q32 deletion syndrome Youngs, Erin L.; Hellings, Jessica A.; Butler, Merlin G. Youngs, Erin L.; Hellings, Jessica A.; Butler, Merlin G. Less Clinical Dysmorphology. 20(3):143-147, July 2011. Favorites PDF Get Content & Permissions Buy
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion Schierz, Ingrid Anne Mandy; Serra, Gregorio; Antona, Vincenzo; More Schierz, Ingrid Anne Mandy; Serra, Gregorio; Antona, Vincenzo; Persico, Ivana; Corsello, Giovanni; Piro, Ettore Less Clinical Dysmorphology. 29(3):141-143, July 2020. Favorites PDF Get Content & Permissions Buy
Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder: Erratum Less Clinical Dysmorphology. 23(4):158, October 2014. Favorites PDF Get Content & Permissions Free
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome Oakley-Hannibal, Elizabeth; Ghali, Neeti; Pope, Francis Michael; More Oakley-Hannibal, Elizabeth; Ghali, Neeti; Pope, Francis Michael; De Franco, Elisa; Ellard, Sian; van Dijk, Fleur S.; Brady, Angela F. Less Clinical Dysmorphology. 29(1):69-72, January 2020. Favorites PDF Get Content & Permissions Buy
A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome Guzoglu, Nilufer; Aslan, Mustafa K.; Gunay, Yasemin D.; More Guzoglu, Nilufer; Aslan, Mustafa K.; Gunay, Yasemin D.; Atasoy, Pinar; Ceylaner, Serdar; Aliefendioglu, Didem Less Clinical Dysmorphology. 29(3):152-154, July 2020. 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
Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy Al-Semari, Abdulaziz; Wakil, Salma M.; Al-Muhaizea, Mohammad A.; More Al-Semari, Abdulaziz; Wakil, Salma M.; Al-Muhaizea, Mohammad A.; Dababo, Mohammed; Al-Amr, Rana; Alkuraya, Fowzan; Meyer, Brian F. Less Clinical Dysmorphology. 22(1):13-17, January 2013. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Free
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
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
Severe feeding difficulties in 3C syndrome Iyer, Prasad; Smith, Rupert Iyer, Prasad; Smith, Rupert Less Clinical Dysmorphology. 14(2):101-103, April 2005. 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
Familial Cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review James, Paul A.; Aftimos, Salim James, Paul A.; Aftimos, Salim Less Clinical Dysmorphology. 12(1):63-68, January 2003. 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
A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation Bhatia, Sameer Kumar; Arora, Veronica; Verma, Ishwar Chander Bhatia, Sameer Kumar; Arora, Veronica; Verma, Ishwar Chander Less Clinical Dysmorphology. 29(3):148-151, July 2020. Favorites PDF Get Content & Permissions Buy
Chromosome 12q24.31 microdeletion and congenital heart disease: a case report and review of the literature Bhatia, Neha S.; Lim, Jiin-Ying; Brett, Maggie S.; More Bhatia, Neha S.; Lim, Jiin-Ying; Brett, Maggie S.; Tan, Ene-Choo; Law, Hai Yang; Thomas, Biju; Choo, Jonathan; Lai, Angeline H.M.; Jamuar, Saumya S. Less Clinical Dysmorphology. 28(1):53-56, January 2019. Favorites PDF Get Content & Permissions Buy
Duplication of distal 20q: clinical, cytogenetic and array CGH Characterization of a new case Iglesias, Alejandro; Rauen, Katherine A.; Albertson, Donna G.; More Iglesias, Alejandro; Rauen, Katherine A.; Albertson, Donna G.; Pinkel, Daniel; Cotter, Philip D. Less Clinical Dysmorphology. 15(1):19-23, January 2006. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease Sherlaw-Sturrock, Charlotte A.; Cassidy, Geraldine; Glover, Kate; More Sherlaw-Sturrock, Charlotte A.; Cassidy, Geraldine; Glover, Kate; Naik, Swati Less Clinical Dysmorphology. 29(1):65-68, January 2020. Favorites PDF Get Content & Permissions Buy
Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; More Hamilton, Mark J.; Newbury-Ecob, Ruth; Holder-Espinasse, Muriel; Yau, Shu; Lillis, Suzanne; Hurst, Jane A.; Clement, Emma; Reardon, William; Joss, Shelagh; Hobson, Emma; Blyth, Moira; Al-Shehhi, Maryam; Lynch, Sally A.; Suri, Mohnish; DDD Study Less Clinical Dysmorphology. 25(4):135-145, October 2016. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; More Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; Henderson, Lindsay B.; Amudhavalli, Shivarajan M. Less Clinical Dysmorphology. 29(3):161-164, July 2020. Favorites PDF Get Content & Permissions Buy
Bilateral hand malformations with absence of carpal bones with fusion of proximal metacarpals Gurav, Ravindra Muralidhar; Patil, Annasaheb B. Gurav, Ravindra Muralidhar; Patil, Annasaheb B. Less Clinical Dysmorphology. 21(1):56-57, January 2012. Favorites PDF Get Content & Permissions Buy
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
16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay Maldžiene, Živile; Bulanovaite, Elena; Aleksiuniene, Beata; More Maldžiene, Živile; Bulanovaite, Elena; Aleksiuniene, Beata; Utkus, Algirdas; Preiksaitiene, Egle Less Clinical Dysmorphology. 28(4):195-197, October 2019. Favorites PDF Get Content & Permissions Buy
Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up König, Rainer; Beeg, Thomas; Tariverdian, Gholamali; More König, Rainer; Beeg, Thomas; Tariverdian, Gholamali; Scheffer, Hans; Bitter, Klaus Less Clinical Dysmorphology. 12(4):221-225, October 2003. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation Erdogan, Mehmet A.; Seckin, Yuksel; Harputluoglu, Muhsin M.; More Erdogan, Mehmet A.; Seckin, Yuksel; Harputluoglu, Muhsin M.; Karincaoglu, Melih; Aladag, Murat; Caliskan, Ali R.; Bilgic, Yilmaz; Yildirim, Oguzhan; Cagin, Yasir F.; Atayan, Yahya; Cengiz, Ayse N.; Emul, Cihat; Esener, Zeynep; Erbay, Mehmet F.; Tekedereli, Ibrahim Less Clinical Dysmorphology. 28(1):22-25, January 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review Abu-Sa'da, Omar; Barbar, Maha; Al-Harbi, Naffaa; More Abu-Sa'da, Omar; Barbar, Maha; Al-Harbi, Naffaa; Taha, Doris Less Clinical Dysmorphology. 14(4):191-196, October 2005. Abstract Abstract Favorites PDF Get Content & Permissions Buy
A family with hereditary congenital facial paresis and a brief review of the literature Alrashdi, Ismail S.; Rich, Philip; Patton, Michael A. Alrashdi, Ismail S.; Rich, Philip; Patton, Michael A. Less Clinical Dysmorphology. 19(4):198-201, October 2010. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Diagnosis of Pallister–Killian syndrome by array comparative genome hybridization from a spleen sample Harrison, Victoria; Williams, Rosy; Connell, Lyndsey; More Harrison, Victoria; Williams, Rosy; Connell, Lyndsey; Kini, Usha Less Clinical Dysmorphology. 20(1):58-60, January 2011. 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
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
Facial profile and additional features in fetuses with trisomy 21 Radhakrishnan, Periyasamy; Nayak, Shalini S.; Shukla, Anju; More Radhakrishnan, Periyasamy; Nayak, Shalini S.; Shukla, Anju; Girisha, Katta M. Less Clinical Dysmorphology. 27(4):126-129, October 2018. Abstract Abstract Favorites PDF Get Content & Permissions Buy
First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa Khazanchi, Rohan; Yetman, Anji T.; Sanmann, Jennifer N.; More Khazanchi, Rohan; Yetman, Anji T.; Sanmann, Jennifer N.; Starr, Lois J. Less Clinical Dysmorphology. 29(3):132-136, July 2020. Favorites PDF Get Content & Permissions Buy
X-linked α thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene Jezela-Stanek, Aleksandra; Fisher, Chris; Szarras-Czapnik, Maria; More Jezela-Stanek, Aleksandra; Fisher, Chris; Szarras-Czapnik, Maria; Olczak-Kowalczyk, Dorota; Gibbons, Richard J.; Slowikowska-Hilczer, Jolanta; Krajewska-Walasek, Malgorzata Less Clinical Dysmorphology. 18(3):168-171, July 2009. 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
Differences in the clinical spectrum of two adolescent male patients with Alström syndrome Kuburovic, Vladimir; Marshall, Jan D.; Collin, Gayle B.; More Kuburovic, Vladimir; Marshall, Jan D.; Collin, Gayle B.; Nykamp, Keith; Kuburovic, Nina; Milenkovic, Tatjana; Rakic, Sanja; Djuric, Milena; Jecmenica, Jovana; Milenkovic, Svetislav; Naggert, Jürgen K. Less Clinical Dysmorphology. 22(1):7-12, January 2013. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Free
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
Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review Cheng, Shirley Sze Wing; Lo, Ivan Fai-Man; Luk, Ho-Ming Cheng, Shirley Sze Wing; Lo, Ivan Fai-Man; Luk, Ho-Ming Less Clinical Dysmorphology. 27(3):84-87, July 2018. 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
Tetralogy of Fallot, microcephaly, short stature and brachymesophalangy is associated with hemizygous loss of noncoding MIR17HG and coding GPC5 Low, Karen J.; Buxton, Chris C.; Newbury-Ecob, Ruth A. Low, Karen J.; Buxton, Chris C.; Newbury-Ecob, Ruth A. Less Clinical Dysmorphology. 24(3):113-114, July 2015. Favorites PDF Get Content & Permissions Buy
A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome Nobile, Stefano; Pisaneschi, Elisa; Novelli, Antonio; More Nobile, Stefano; Pisaneschi, Elisa; Novelli, Antonio; Carnielli, Virgilio P. Less Clinical Dysmorphology. 28(2):74-77, April 2019. Favorites PDF Get Content & Permissions Buy
Two brothers with Goldberg–Shprintzen syndrome Murphy, Helen R.; Carver, Melanie J.; Brooks, Alice S.; More Murphy, Helen R.; Carver, Melanie J.; Brooks, Alice S.; Kenny, Simon E.; Ellis, Ian H. Less Clinical Dysmorphology. 15(3):165-169, July 2006. Abstract Abstract Favorites PDF Get Content & Permissions Buy
GAPO syndrome: a case associated with bilateral interstitial keratitis and hypothyroidism Lei, Shaobo; Iyengar, Srinivas; Shan, Li; More Lei, Shaobo; Iyengar, Srinivas; Shan, Li; Cherwek, David Hunter; Murthy, Somasheila; Wong, Agnes M.F. Less Clinical Dysmorphology. 19(2):79-81, April 2010. Favorites PDF Get Content & Permissions Buy
Deletion 3q22.1–q23 with blepharophimosis, ptosis and epicanthus inversus and an Albright hereditary osteodystrophy-like brachydactyly phenotype Croft, Marion S.; Turnpenny, Peter D. Croft, Marion S.; Turnpenny, Peter D. Less Clinical Dysmorphology. 17(3):189-191, July 2008. Favorites PDF Get Content & Permissions Buy
Familial Kagami–Ogata syndrome in Chinese Luk, Ho-Ming Luk, Ho-Ming Less Clinical Dysmorphology. 26(2):124-127, April 2017. Favorites PDF Get Content & Permissions Buy
De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus Sudha, T.; Dawson, A. J.; Prasad, A. N.; More Sudha, T.; Dawson, A. J.; Prasad, A. N.; Konkin, D.; de Groot, G. W.; Prasad, C. Less Clinical Dysmorphology. 10(3):193-196, July 2001. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Microdeletion of the entire IRF6 gene in a Subsaharian African’s family with Van der Woude syndrome Mbuyi-Musanzayi, Sébastien; Kasamba, Eric I.; Revencu, Nicole; More Mbuyi-Musanzayi, Sébastien; Kasamba, Eric I.; Revencu, Nicole; Lukusa, Prosper T.; Kalenga, Prosper M.; Tshilombo, François K.; Reychler, Hervé; Devriendt, Koenraad Less Clinical Dysmorphology. 29(1):24-27, January 2020. Abstract Abstract Favorites PDF Get Content & Permissions Buy
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
Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations Day, Ruth; Fryer, Alan Day, Ruth; Fryer, Alan Less Clinical Dysmorphology. 13(1):17-19, January 2004. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Mutation in the ADNP gene associated with Noonan syndrome features Alkhunaizi, Ebba; Walkiewicz, Magdalena A.; Chitayat, David Alkhunaizi, Ebba; Walkiewicz, Magdalena A.; Chitayat, David Less Clinical Dysmorphology. 27(2):53-57, April 2018. 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
Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome Pelc, Magdalena; Ciara, Elzbieta; Jezela-Stanek, Aleksandra; More Pelc, Magdalena; Ciara, Elzbieta; Jezela-Stanek, Aleksandra; Kugaudo, Monika; Cieslikowska, Agata; Jurkiewicz, Dorota; Janeczko, Magdalena; Chrzanowska, Krystyna; Krajewska-Walasek, Malgorzata; Skórka, Agata Less Clinical Dysmorphology. 26(2):83-90, April 2017. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association Miranda, Patricia; Slavotinek, Anne Miranda, Patricia; Slavotinek, Anne Less Clinical Dysmorphology. 26(2):132-133, April 2017. Favorites PDF Get Content & Permissions Buy
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 van den Ende, Jenneke J.; Borra, Vere; Van Hul, Wim Less Clinical Dysmorphology. 22(1):1-6, January 2013. Abstract Abstract Favorites PDF Get Content & Permissions Go to Full Text of this Article Free
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
Cenani–Lenz syndactyly in a patient with features of Kabuki syndrome Elliott, Alison M.; Reed, Martin H.; Evans, Jane A.; More Elliott, Alison M.; Reed, Martin H.; Evans, Jane A.; Cross, Howard G.; Chudley, Albert E. Less Clinical Dysmorphology. 13(3):143-150, July 2004. Abstract Abstract Favorites PDF Get Content & Permissions Buy
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
Fetal aortopulmonary window associated with urorectal malformation and common cloaca Gowda, Mamatha; Reddy, Monica; Ramesh, Devika; More Gowda, Mamatha; Reddy, Monica; Ramesh, Devika; Prasad, Srivatsa Less Clinical Dysmorphology. 29(1):38-41, January 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
Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder Kilsby, Amanda J.; Cruwys, Michele; Kukendrajah, Chelvi; More Kilsby, Amanda J.; Cruwys, Michele; Kukendrajah, Chelvi; Russell-Eggitt, Isabelle; Raglan, Ewa; Rajput, Kaukab; Loshe, Peter; Brady, Angela F. Less Clinical Dysmorphology. 22(2):64-67, April 2013. Favorites PDF Get Content & Permissions Buy Erratum
Nicolaides–Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals Morin, Gilles; Villemain, Lucie; Baumann, Clarisse; More Morin, Gilles; Villemain, Lucie; Baumann, Clarisse; Mathieu, Michèle; Blanc, Nathalie; Verloes, Alain Less Clinical Dysmorphology. 12(4):237-240, October 2003. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo–auriculo–vertebral spectrum and Treacher–Collins syndrome Su, Pen-Hua; Yu, Ju-Shan; Chen, Jia-Yuh; More Su, Pen-Hua; Yu, Ju-Shan; Chen, Jia-Yuh; Chen, Suh-Jen; Li, Shuan-Yow; Chen, Hsiao-Neng Less Clinical Dysmorphology. 16(4):261-267, October 2007. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Unilateral tibial agenesia with preaxial polysyndactyly and renal disorder in two patients: a new syndrome? Tüysüz, Beyhan; Beker, Bahar Dildar; Centel, Tuncay; More Tüysüz, Beyhan; Beker, Bahar Dildar; Centel, Tuncay; Üngür, Savas; lter, Özdemir Less Clinical Dysmorphology. 10(1):37-40, January 2001. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Long-term follow-up in Stuve–Wiedemann syndrome: a case report with articular involvement Buonuomo, Paola Sabrina; Macchiaiolo, Marina; Cambiaso, Paola; More Buonuomo, Paola Sabrina; Macchiaiolo, Marina; Cambiaso, Paola; Rana, Ippolita; Digilio, Maria Cristina; Bartuli, Andrea Less Clinical Dysmorphology. 23(2):45-46, April 2014. 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
Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome Hülskamp, Georg; Wieczorek, Dagmar; Rieder, Harald; More Hülskamp, Georg; Wieczorek, Dagmar; Rieder, Harald; Louwen, Frank; Hörnig-Franz, Isabell; Rickert, Christian H.; Horst, Jürgen; Harms, Erik; Rehder, Helga Less Clinical Dysmorphology. 12(3):153-160, July 2003. Favorites PDF Get Content & Permissions Buy
Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene Kirola, Laxmi; Edgar-Zarate, Courtney L.; Rook, Brita; More Kirola, Laxmi; Edgar-Zarate, Courtney L.; Rook, Brita; Rowell, Amy C.; Wood, Tim; Uchimura, Kenji; Schwartz, Charles E.; Zarate, Yuri A. Less Clinical Dysmorphology. 29(3):144-147, July 2020. Favorites PDF Get Content & Permissions Buy
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family Maroofian, Reza; Murdocca, Michela; Rezaei-Delui, Hossein; More Maroofian, Reza; Murdocca, Michela; Rezaei-Delui, Hossein; Nekooei, Amirhossein; Mojarad, Majid; Sangiuolo, Federica; Novelli, Giuseppe; Superti-Furga, Andrea; D’Apice, Maria Rosaria Less Clinical Dysmorphology. 27(3):88-90, July 2018. Favorites PDF Get Content & Permissions Buy
Apert syndrome with congenital diaphragmatic hernia: another case report and review of the literature Kaur, Ravneet; Mishra, Puneeta; Kumar, Surjeet; More Kaur, Ravneet; Mishra, Puneeta; Kumar, Surjeet; Sankar, Mari J.; Kabra, Madhulika; Gupta, Neerja Less Clinical Dysmorphology. 28(2):78-80, April 2019. Favorites PDF Get Content & Permissions Buy
Nevo syndrome HILDERINK, B. G.M.; BRUNNER, H. G HILDERINK, B. G.M.; BRUNNER, H. G Less Clinical Dysmorphology. 4(4):319-323, October 1995. Favorites PDF Get Content & Permissions Buy
Dandy–walker malformation with postaxial polydactly: a new case of Pierquin syndrome Passalacqua, Cristóbal A.; Villegas, Victor P.; Aracena, Mariana I.; More Passalacqua, Cristóbal A.; Villegas, Victor P.; Aracena, Mariana I.; Mellado, Cecilia X. Less Clinical Dysmorphology. 22(2):51-53, April 2013. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females Pöyhönen, Minna H.; Peippo, Maarit M.; Valanne, Leena K.; More Pöyhönen, Minna H.; Peippo, Maarit M.; Valanne, Leena K.; Kuokkanen, Kirsti E.; Koskela, Susanna M.; Bartsch, Oliver; Rasi, Sasan; Wiebe, Glenis J.; Kähkönen, Marketta; Kääriäinen, Helena A. Less Clinical Dysmorphology. 13(2):85-90, April 2004. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity Hyder, Zerin; Fairclough, Adele; Douzgou, Sofia Hyder, Zerin; Fairclough, Adele; Douzgou, Sofia Less Clinical Dysmorphology. 28(3):129-134, July 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Serpentine-like syndrome associated with encephalocele Dorum, Bayram A.; Korkmaz, Serpil; Özkan, Hilal; More Dorum, Bayram A.; Korkmaz, Serpil; Özkan, Hilal; Köksal, Nilgün; Bagci, Onur; Yazici, Zeynep; Gürpinar, Arif N. Less Clinical Dysmorphology. 25(3):110-112, July 2016. Favorites PDF Get Content & Permissions Buy
