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
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
Dual diagnosis causing severe phenotype in a patient with Angelman syndrome Kanani, Farah; Mordekar, Santosh; Parker, Michael J.; More Kanani, Farah; Mordekar, Santosh; Parker, Michael J.; Balasubramanian, Meena; DDD Study Less Clinical Dysmorphology. 28(3):158-161, 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 SDC
Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant Aiyar, Lila; Stumbaugh, Tammy; Hirata, Greigh I.; More Aiyar, Lila; Stumbaugh, Tammy; Hirata, Greigh I.; Chen, Bruce; Lau, Helen L.; Wallerstein, Robert J. Less Clinical Dysmorphology. 28(3):162-164, July 2019. Favorites PDF Get Content & Permissions Buy
Aortic and pulmonary artery dilatation in Cantu syndrome: expanding the phenotype Chew, Yi-Rong; Lim, Jiin-Ying; Teoh, Oon-Hoe; More Chew, Yi-Rong; Lim, Jiin-Ying; Teoh, Oon-Hoe; Chen, Ching-Kit; Foo, Roger; Lai, Angeline HM; Jamuar, Saumya S. Less Clinical Dysmorphology. 28(3):165-167, July 2019. Favorites PDF Get Content & Permissions Buy SDC
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
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
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
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
Phenotypic description of two adult brothers presenting with mild form of Smith–Lemli–Opitz syndrome Olech, Ewelina M.; Matuszewska, Karolina; Piechota, Michal; More Olech, Ewelina M.; Matuszewska, Karolina; Piechota, Michal; Latos-Bielenska, Anna; Jamsheer, Aleksander Less Clinical Dysmorphology. 28(3):152-154, July 2019. Favorites PDF Get Content & Permissions Buy
Extensive Mongolian spots in 4p16.3 deletion (Wolf–Hirschhorn syndrome) Ziegler, Alban; Guichet, Agnès; Pinson, Lucille; More Ziegler, Alban; Guichet, Agnès; Pinson, Lucille; Barth, Magalie; Levade, Thierry; Bonneau, Dominique; Colin, Estelle Less Clinical Dysmorphology. 23(3):109-110, July 2014. 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
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders Gazdagh, Gabriella E.; Wang, Cunyi; McGowan, Ruth; More Gazdagh, Gabriella E.; Wang, Cunyi; McGowan, Ruth; Tobias, Edward S.; Ahmed, S. Faisal; DDD Study Less Clinical Dysmorphology. 28(3):112-117, July 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Clinical features of NSD1-positive Sotos syndrome Tatton-Brown, Katrina; Rahman, Nazneen Tatton-Brown, Katrina; Rahman, Nazneen Less Clinical Dysmorphology. 13(4):199-204, October 2004. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Mental retardation, ptosis and polydactyly: a new autosomal recessive syndrome? Panigrahi, Inusha; Phadke, Shubha R.; Agarwal, S.S. Panigrahi, Inusha; Phadke, Shubha R.; Agarwal, S.S. Less Clinical Dysmorphology. 11(4):289-292, October 2002. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication Gucev, Zoran S.; Tasic, Velibor B.; Saveski, Aleksandar; More Gucev, Zoran S.; Tasic, Velibor B.; Saveski, Aleksandar; Polenakovic, Momir H.; Laban, Nevenka B.; Zechner, Ulrich; Bartsch, Oliver Less Clinical Dysmorphology. 28(3):140-142, July 2019. 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
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
A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome Becker, K.; Splitt, M. Becker, K.; Splitt, M. Less Clinical Dysmorphology. 10(1):41-45, January 2001. 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
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 second case of Devriendt syndrome Koenig, Rainer; Meinecke, Peter; Fuchs, Sigrun Koenig, Rainer; Meinecke, Peter; Fuchs, Sigrun Less Clinical Dysmorphology. 14(1):19-22, January 2005. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Unusual association of Mayer–Rokitansky–Küster–Hauser and Sotos syndromes: a case report Cattoni, Alessandro; Albanese, Assunta; Tatton-Brown, Katrina Cattoni, Alessandro; Albanese, Assunta; Tatton-Brown, Katrina Less Clinical Dysmorphology. 28(3):155-157, July 2019. Favorites PDF Get Content & Permissions Buy
Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome? Brady, A.F.; Winter, R.M.; Wilson, L.C.; More Brady, A.F.; Winter, R.M.; Wilson, L.C.; Tatnall, F.M.; Sheridan, R.J.; Garrett, C. Less Clinical Dysmorphology. 11(3):155-161, July 2002. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Nicolaides–Baraitser syndrome: two new cases with autism spectrum disorder Gana, Simone; Panizzon, Michela; Fongaro, Daniela; More Gana, Simone; Panizzon, Michela; Fongaro, Daniela; Selicorni, Angelo; Memo, Luigi; Scandurra, Valeria; Vannucci, Chiara; Bigozzi, Marta; Scordo, Maria Rosaria Less Clinical Dysmorphology. 20(1):38-41, January 2011. 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
Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures – a new syndrome? Roper, Emma C.; Hobson, Emma E.; Sprigg, Alan; More Roper, Emma C.; Hobson, Emma E.; Sprigg, Alan; Dobbie, Angus; Parker, Michael J. Less Clinical Dysmorphology. 14(3):117-121, July 2005. Abstract Abstract 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
Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement Gabrielli, Orazio; Bruni, Stefano; Bruschi, Barbara; More Gabrielli, Orazio; Bruni, Stefano; Bruschi, Barbara; Carloni, Ines; Coppa, Giovanni Valentino Less Clinical Dysmorphology. 11(1):71-72, January 2002. Favorites PDF Get Content & Permissions Buy
A Schinzel-Giedion-like syndrome — a milder version or a separate condition? Joss, Shelagh; Dean, John C.S. Joss, Shelagh; Dean, John C.S. Less Clinical Dysmorphology. 11(4):271-275, October 2002. Abstract Abstract Favorites PDF Get Content & Permissions Buy
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
A female infant with duplication of chromosome 2q33 to 2q37.3 Slavotinek, Anne M.; Boles, Debra; Lacbawan, Felicitas Slavotinek, Anne M.; Boles, Debra; Lacbawan, Felicitas Less Clinical Dysmorphology. 12(4):251-256, October 2003. Abstract Abstract 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
Myhre syndrome: a report of six Chinese patients and literature review Yu, Kris Pui-Tak; Luk, Ho-Ming; Chung, Brian Hon-Yin; More Yu, Kris Pui-Tak; Luk, Ho-Ming; Chung, Brian Hon-Yin; Lo, Ivan Fai-Man Less Clinical Dysmorphology. 28(3):143-148, July 2019. Favorites PDF Get Content & Permissions Buy
Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? Guala, Andrea; Massa, Paolo; Foscolo, Anna Maria; More Guala, Andrea; Massa, Paolo; Foscolo, Anna Maria; Olivero, Fabrizio; Van Maldergem, Lionel; Danesino, Cesare Less Clinical Dysmorphology. 22(1):29-32, January 2013. Favorites PDF Get Content & Permissions Free
Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features Al-Gazali, L.I.; Ravenscroft, A.; Feng, A.; More Al-Gazali, L.I.; Ravenscroft, A.; Feng, A.; Shubbar, A.; Al-Saggaf, A.; Haas, D. Less Clinical Dysmorphology. 12(1):1-8, January 2003. Abstract Abstract Favorites PDF Get Content & Permissions Buy
Fetal methotrexate/aminopterin syndrome in an adult: a likely case with ectodermal abnormalities Aftimos, Salim Aftimos, Salim Less Clinical Dysmorphology. 18(1):53-55, January 2009. Abstract Abstract Favorites PDF Get Content & Permissions Buy
UBE2A-related X-linked intellectual disability Stevenson, Roger E.; Chudley, Albert E.; Srivastava, Anand K.; More Stevenson, Roger E.; Chudley, Albert E.; Srivastava, Anand K.; Rodriguez, Jayson; Friez, Michael J.; Schwartz, Charles E. Less Clinical Dysmorphology. 28(1):1-6, January 2019. Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC
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
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. Favorites PDF Get Content & Permissions Buy
Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell–Silver syndrome? Li, Chumei C.; Chodirker, Bernard N.; Dawson, Angelika J.; More Li, Chumei C.; Chodirker, Bernard N.; Dawson, Angelika J.; Chudley, Albert E. Less Clinical Dysmorphology. 13(2):95-98, April 2004. Abstract Abstract Favorites PDF Get Content & Permissions Buy
