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 Abstract: Go to Full Text of this Article
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
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
SHORT syndrome Koenig, Rainer; Brendel, Leticia; Fuchs, Sigrun Koenig, Rainer; Brendel, Leticia; Fuchs, Sigrun Less Clinical Dysmorphology. 12(1):45-49, January 2003. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis Wechsler, Stephanie Burns; Lehoczky, Jessica A.; Hall, Judith G.; More Wechsler, Stephanie Burns; Lehoczky, Jessica A.; Hall, Judith G.; Innis, Jeffrey W. Less Clinical Dysmorphology. 13(2):63-69, April 2004. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
KBG syndrome: 16q24.3 microdeletion in an Indian patient Srivastava, Priyanka; Gambhir, Poonam S.; Phadke, Shubha R. Srivastava, Priyanka; Gambhir, Poonam S.; Phadke, Shubha R. Less Clinical Dysmorphology. 26(3):161-166, July 2017. Favorites PDF Get Content & Permissions
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
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
Left ventricular dysfunction in a patient with Angelman syndrome Powell, Adam W.; Taylor, Michael D.; Hopkin, Robert J.; More Powell, Adam W.; Taylor, Michael D.; Hopkin, Robert J.; Sublett, Juli; Jefferies, John L. Less Clinical Dysmorphology. 27(1):21-22, January 2018. Favorites PDF Get Content & Permissions
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
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
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
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 Abstract:
SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature Kanani, Farah; Study, DDD; Balasubramanian, Meena Kanani, Farah; Study, DDD; Balasubramanian, Meena Less Clinical Dysmorphology. 27(4):113-115, October 2018. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
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
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
Dyshormonogenic hypothyroidism with normal neurological development, unexplained short stature and facial anomalies in three siblings Vakili, Rahim; Mazlouman, Shahriar Jalali Vakili, Rahim; Mazlouman, Shahriar Jalali Less Clinical Dysmorphology. 12(1):21-27, January 2003. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Robinow syndrome: a diagnosis at the fingertips Murali, Chaya N.; Keena, Beth; Zackai, Elaine H. Murali, Chaya N.; Keena, Beth; Zackai, Elaine H. Less Clinical Dysmorphology. 27(4):135-137, October 2018. Favorites PDF Get Content & Permissions
Severe intellectual disability in a patient with Burn–McKeown syndrome Strang-Karlsson, Sonja; Urquhart, Jill; Newman, William G.; More Strang-Karlsson, Sonja; Urquhart, Jill; Newman, William G.; Douzgou, Sofia Less Clinical Dysmorphology. 26(3):193-194, July 2017. Favorites PDF Get Content & Permissions
Myhre syndrome with novel findings: bilateral congenital cortical cataract, bilateral papilledema, accessory nipple, and adenoid hypertrophy Erdem, Haktan B.; Sahin, Ibrahim; Tatar, Abdulgani Erdem, Haktan B.; Sahin, Ibrahim; Tatar, Abdulgani Less Clinical Dysmorphology. 27(1):12-14, January 2018. Favorites PDF Get Content & Permissions
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 Abstract:
First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): review of the literature Nobili, Valerio; Mosca, Antonella; Francalanci, Paola; More Nobili, Valerio; Mosca, Antonella; Francalanci, Paola; Maria Cristina, Digilio; Dallapiccola, Bruno Less Clinical Dysmorphology. 27(2):42-45, April 2018. Favorites PDF Get Content & Permissions
Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia Morava, Éva; Bartsch, Oliver; Czakó, Márta; More Morava, Éva; Bartsch, Oliver; Czakó, Márta; Frensel, Arleta; Kalscheuer, Vera; Kárteszi, Judit; Kosztolányi, György Less Clinical Dysmorphology. 12(2):123-127, April 2003. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
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 Abstract:
A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema Gumus, Evren Gumus, Evren Less Clinical Dysmorphology. 27(3):91-93, July 2018. Favorites PDF Get Content & Permissions
3-M syndrome: description of six new patients with review of the literature van der Wal, G.; Otten, B. J.; Brunner, H. G.; More van der Wal, G.; Otten, B. J.; Brunner, H. G.; van der Burgt, I. Less Clinical Dysmorphology. 10(4):241-252, October 2001. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
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
Contiguous gene deletion of TBX5 and TBX3: report of another case Forzano, Francesca; Foley, Patricia A.; Keane, Morgan R.; More Forzano, Francesca; Foley, Patricia A.; Keane, Morgan R.; Brain, Caroline E.; Smith, Gill D.; Yates, Robert W.; Ellershaw, Drew; Calder, Alistair D.; Scott, Richard H. Less Clinical Dysmorphology. 27(1):6-8, January 2018. Favorites PDF Get Content & Permissions
Dysmorphic findings in two cases of abeta/hypobetalipoproteinemia Solomon, Benjamin D.; Mohan, Parvathi; Tifft, Cynthia J. Solomon, Benjamin D.; Mohan, Parvathi; Tifft, Cynthia J. Less Clinical Dysmorphology. 18(2):90-91, April 2009. Favorites PDF Get Content & Permissions
Variable clinical presentation in primary lymphoedema: report of two cases Ozyurt, Abdullah; Sevinc, Eylem; Baykan, Ali; More Ozyurt, Abdullah; Sevinc, Eylem; Baykan, Ali; Arslan, Duran; Argun, Mustafa; Pamukcu, Ozge; Uzum, Kazim Less Clinical Dysmorphology. 23(3):83-87, July 2014. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
A novel presentation of a rare chromosome 2p25.2 deletion Becker, Kristin; Jaggard, Charlotte; Horrocks, Sarah Becker, Kristin; Jaggard, Charlotte; Horrocks, Sarah Less Clinical Dysmorphology. 19(2):101-102, April 2010. Favorites PDF Get Content & Permissions
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome) Searle, Claire; Jewell, Rosalyn; Kraft, Jeannette; More Searle, Claire; Jewell, Rosalyn; Kraft, Jeannette; Stoebe, Petra; Chumas, Paul; Titheradge, Hannah; Kraus, Alison; Gencik, Martin; Hobson, Emma Less Clinical Dysmorphology. 23(1):12-15, January 2014. Favorites PDF Get Content & Permissions
Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association Agarwal, Ramesh; Aggarwal, Rajiv; Kabra, Madhulika; More Agarwal, Ramesh; Aggarwal, Rajiv; Kabra, Madhulika; Deorari, Ashok K. Less Clinical Dysmorphology. 11(3):223-224, July 2002. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Craniosynostosis associated with intracranial calcification: a novel recessive syndrome Longman, Cheryl; Whiteford, Margo; Koppel, David; More Longman, Cheryl; Whiteford, Margo; Koppel, David; Donaldson, Malcolm; Paterson, Wendy; Tolmie, John Less Clinical Dysmorphology. 12(4):215-220, October 2003. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Morning Glory fundus anomaly, coloboma of the optic nerve, porencephaly and hydronephrosis in a newborn infant: MCPH entity MERLOB, P; I KREMER, HOREV G; NISSENKORN, I. MERLOB, P; I KREMER, HOREV G; NISSENKORN, I. Less Clinical Dysmorphology. 4(4):313-318, October 1995. Favorites PDF Get Content & Permissions
A patient with chromosome 18p deletion and congenital hypoglossia Klaphake, Sanne; van Dooren, Marieke F.; Senden, Richelle E.M.; More Klaphake, Sanne; van Dooren, Marieke F.; Senden, Richelle E.M.; Hoogeboom, A. Jeannette M.; Wolvius, Eppo B.; Koudstaal, Maarten J. Less Clinical Dysmorphology. 27(2):46-48, April 2018. Favorites PDF Get Content & Permissions
Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay Zahanova, Stacy; Meaney, Brandon; Labieniec, Beata; More Zahanova, Stacy; Meaney, Brandon; Labieniec, Beata; Verdin, Hannah; De Baere, Elfride; Nowaczyk, Malgorzata J.M. Less Clinical Dysmorphology. 21(1):48-52, January 2012. Favorites PDF Get Content & Permissions
Digitotalar dysmorphism with craniofacial and other new associated abnormalities Kantaputra, Piranit N.; Chalidapong, Preecha; Visrutaratna, Pannee Kantaputra, Piranit N.; Chalidapong, Preecha; Visrutaratna, Pannee Less Clinical Dysmorphology. 10(3):171-175, July 2001. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features Vuorela, Pia E.; Penttinen, Maila T.; Hietala, Marja H.; More Vuorela, Pia E.; Penttinen, Maila T.; Hietala, Marja H.; Laine, Jukka O.; Huoponen, Kirsi A.; Kääriäinen, Helena A. Less Clinical Dysmorphology. 17(4):249-253, October 2008. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
A novel TWIST1 gene mutation in a patient with Saethre–Chotzen syndrome Altiner, Sule; Karabulut, Halil G.; Yararbas, Kanay; More Altiner, Sule; Karabulut, Halil G.; Yararbas, Kanay; Tükün, Ajlan; Collet, Corinne; Kocaay, Pinar; Berberoglu, Merih; Ilgin Ruhi, Hatice Less Clinical Dysmorphology. 26(3):175-178, July 2017. Favorites PDF Get Content & Permissions
Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome Moirangthem, Amita; Tuteja Bhatia, Moni; Srivastava, Priyanka; More Moirangthem, Amita; Tuteja Bhatia, Moni; Srivastava, Priyanka; Mandal, Kausik; Rai, Archana; Phadke, Shubha R. Less Clinical Dysmorphology. 26(2):73-77, April 2017. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Femoral-facial syndrome with hemifacial microsomia and hypoglossia Düzcan, Füsun; Ergin, Hacer; Perçin, E. Ferda; More Düzcan, Füsun; Ergin, Hacer; Perçin, E. Ferda; Tepeli, Emre; Erkula, Gürkan Less Clinical Dysmorphology. 13(1):43-44, January 2004. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea Sivagnanam, Mamata; Janecke, Andreas R.; Müller, Thomas; More Sivagnanam, Mamata; Janecke, Andreas R.; Müller, Thomas; Heinz-Erian, Peter; Taylor, Sharon; Bird, Lynne M. Less Clinical Dysmorphology. 19(1):48, January 2010. Favorites PDF Get Content & Permissions
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation Minzer-Conzetti, Karen; Wu, Erica; Vargervik, Karin; More Minzer-Conzetti, Karen; Wu, Erica; Vargervik, Karin; Slavotinek, Anne Less Clinical Dysmorphology. 17(1):1-4, January 2008. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
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 Abstract: Go to Full Text of this Article
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
Kapur–Toriello syndrome: a further case report and expansion of the phenotype Lefroy, Henrietta; Goodacre, Tim; Kini, Usha Lefroy, Henrietta; Goodacre, Tim; Kini, Usha Less Clinical Dysmorphology. 24(4):170-172, October 2015. Favorites PDF Get Content & Permissions
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 Abstract:
Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult Fagerberg, Christina R.; Eriksen, Finn B.; Thormann, Jens; More Fagerberg, Christina R.; Eriksen, Finn B.; Thormann, Jens; Østergaard, John R. Less Clinical Dysmorphology. 21(1):45-47, January 2012. Favorites PDF Get Content & Permissions
Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa Lubala, Toni K.; Lumaka, Aimé; Mbuyi-Musanzayi, Sébastien; More Lubala, Toni K.; Lumaka, Aimé; Mbuyi-Musanzayi, Sébastien; Kayembe, Tony; Shongo, Mick Y.P.; Mukuku, Olivier; Lubala, Nina; Malamba-Lez, Didier; Luboya, Oscar N.; Lukusa-Tshilobo, Prosper Less Clinical Dysmorphology. 27(2):66-69, April 2018. Favorites PDF Get Content & Permissions
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
Long-term survival in Patau syndrome Tunca, Yusuf; Kadandale, Jayarama S.; Pivnick, Enikö Kármán Tunca, Yusuf; Kadandale, Jayarama S.; Pivnick, Enikö Kármán Less Clinical Dysmorphology. 10(2):149-150, April 2001. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity? Breckpot, Jeroen; Thienpont, Bernard; Vanhole, Christine; More Breckpot, Jeroen; Thienpont, Bernard; Vanhole, Christine; Van Rossem, Els; Van Schoubroeck, Dominique; Fryns, Jean-Pierre; Lagae, Lieven; Buyse, Gunnar; Devriendt, Koen Less Clinical Dysmorphology. 18(4):195-200, October 2009. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Inherited duplication of Xq27.2 ← qter: phenocopy of infantile Prader-Willi syndrome Lammer, Edward J.; Punglia, Darashana R.; Fuchs, Andrea E.; More Lammer, Edward J.; Punglia, Darashana R.; Fuchs, Andrea E.; Rowe, Amy G.; Cotter, Philip D. Less Clinical Dysmorphology. 10(2):141-144, April 2001. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Potocki–Lupski syndrome mimicking a connective tissue disorder Martin, Judy; Knight, Samantha J.L.; Sharp, Andrew J.; More Martin, Judy; Knight, Samantha J.L.; Sharp, Andrew J.; Eichler, Evan E.; Hurst, Jane; Kini, Usha Less Clinical Dysmorphology. 17(3):211-213, July 2008. Favorites PDF Get Content & Permissions
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
Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome Northup, Jill K.; Matalon, Dena; Hawkins, Judy C.; More Northup, Jill K.; Matalon, Dena; Hawkins, Judy C.; Matalon, Reuben; Velagaleti, Gopalrao V.N. Less Clinical Dysmorphology. 19(4):185-189, October 2010. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
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 Abstract:
Wolf–Hirschhorn syndrome: a historical note and comment on an older adult Searle, Claire J.; Shearing, Emma; Quarrell, Oliver W. Searle, Claire J.; Shearing, Emma; Quarrell, Oliver W. Less Clinical Dysmorphology. 22(4):149-151, October 2013. Favorites PDF Get Content & Permissions
Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities Seller, Mary J; Fear, Claudine; Kumar, Ajith; More Seller, Mary J; Fear, Claudine; Kumar, Ajith; Mohammed, Shehla Less Clinical Dysmorphology. 13(3):187-189, July 2004. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
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
Ocular anomalies in Rubinstein–Taybi syndrome: a further case report and review of the literature Candan, Sukru; Ornek, Cigdem; Candan, Feride Candan, Sukru; Ornek, Cigdem; Candan, Feride Less Clinical Dysmorphology. 23(4):138-142, October 2014. Favorites PDF Get Content & Permissions
Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome PHILIP, N.; ANDRAC, L.; MONCLA, A.; More PHILIP, N.; ANDRAC, L.; MONCLA, A.; SIGAUDY, S.; ZANON, N.; LENA, G.; CHOUX, M. Less Clinical Dysmorphology. 4(4):347-351, October 1995. Favorites PDF Get Content & Permissions
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
Fumarase deficiency: a rare disorder on the crossroads of clinical and metabolic genetics, neurology and cancer Prasad, Charushree; Napier, Melanie P.; Rupar, Charles A.; More Prasad, Charushree; Napier, Melanie P.; Rupar, Charles A.; Prasad, Chitra Less Clinical Dysmorphology. 26(2):117-120, April 2017. Favorites PDF Get Content & Permissions
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
Femoral facial syndrome: a case report with coexistent hydrocephaly Ho, Allen L.; LeFloch, Nathalie; Levy, Michael L.; More Ho, Allen L.; LeFloch, Nathalie; Levy, Michael L.; Bird, Lynne M. Less Clinical Dysmorphology. 17(4):259-263, October 2008. Favorites PDF Get Content & Permissions
A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism Garcia-Heras, Jaime; Kilani, Ramzi A.; Martin, Rick A.; More Garcia-Heras, Jaime; Kilani, Ramzi A.; Martin, Rick A.; Lamp, Stephen Less Clinical Dysmorphology. 14(3):137-140, July 2005. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Facial asymmetry associated with small and large intestinal atresia, and ipsilateral malformations of eye, skin, and extremities Hove, Hanne Dahlgaard; Bisgaard, Anne-Marie; Nissen, Kamilla Rothe; More Hove, Hanne Dahlgaard; Bisgaard, Anne-Marie; Nissen, Kamilla Rothe; Kirchhoff, Maria Less Clinical Dysmorphology. 17(2):121-122, April 2008. Favorites PDF Get Content & Permissions
Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement Dursun, Ali; Ozgul, R. Koksal; Soydas, Asli; More Dursun, Ali; Ozgul, R. Koksal; Soydas, Asli; Tugrul, Tugba; Gurgey, Aytemiz; Celiker, Alpay; Barst, Robyn J.; Knowles, James A.; Mahesh, Mansukhani; Morse, Jane H. Less Clinical Dysmorphology. 18(1):19-23, January 2009. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination Honey, E.M.; van Rensburg, M.; Knoll, D.P.; More Honey, E.M.; van Rensburg, M.; Knoll, D.P.; Mienie, L.J.; van de Werke, I.; Beighton, P. Less Clinical Dysmorphology. 12(2):95-99, April 2003. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
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
Expanding the phenotype of 22q11 deletion syndrome: the MURCS association Uliana, Vera; Giordano, Nicola; Caselli, Rossella; More Uliana, Vera; Giordano, Nicola; Caselli, Rossella; Papa, Filomena Tiziana; Ariani, Francesca; Marcocci, Claudio; Gianetti, Elena; Martini, Giuseppe; Papakostas, Panagiotis; Rollo, Fabio; Meloni, Ilaria; Mari, Francesca; Priolo, Manuela; Renieri, Alessandra; Nuti, Ranuccio Less Clinical Dysmorphology. 17(1):13-17, January 2008. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata Brimble, Elise; Pacione, Michelle; Farrelly, Ellyn; More Brimble, Elise; Pacione, Michelle; Farrelly, Ellyn; Stevenson, David A.; Ruzhnikov, Maura R.Z. Less Clinical Dysmorphology. 27(4):151-153, October 2018. Favorites PDF Get Content & Permissions
Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata Bisgaard, Anne-Marie; Rasmussen, Leif Normann; Møller, Hans Ulrik; More Bisgaard, Anne-Marie; Rasmussen, Leif Normann; Møller, Hans Ulrik; Kirchhoff, Maria; Bryndorf, Thue Less Clinical Dysmorphology. 16(2):109-112, April 2007. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
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 Abstract:
Blepharophimosis–ptosis–epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element Bouman, Arjan; van Haelst, Mieke; van Spaendonk, Rosalina Bouman, Arjan; van Haelst, Mieke; van Spaendonk, Rosalina Less Clinical Dysmorphology. 27(2):58-62, April 2018. Favorites PDF Get Content & Permissions
