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
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
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 Abstract: Buy SDC
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 Open
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 SDC
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 SDC
Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson Palka, Chiara; Antonucci, Ivana; Alfonsi, Melissa; More Palka, Chiara; Antonucci, Ivana; Alfonsi, Melissa; Bedeschi, Maria Francesca; Mohn, Angelika; Lalatta, Faustina; Chiarelli, Francesco; Palka, Giandomenico; Stuppia, Liborio Less Clinical Dysmorphology. 21(3):137-140, July 2012. Favorites PDF Get Content & Permissions Buy
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 Abstract: Buy SDC
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
Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation Bend, Eric G.; Louie, Raymond J.; Stevenson, Roger E. Bend, Eric G.; Louie, Raymond J.; Stevenson, Roger E. Less Clinical Dysmorphology. 28(2):71-73, April 2019. Favorites PDF Get Content & Permissions Buy SDC
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 SDC
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 SDC
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 SDC
LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings Basdemirci, Muserref; Zamani, Ayse G.; Sener, Sevgi; More Basdemirci, Muserref; Zamani, Ayse G.; Sener, Sevgi; Tassoker, Melek; Cetmili, Hayriye; Zamani, Adil; Aydogdu, Demet; Basdemirci, Ali; Yildirim, Mahmut S. Less Clinical Dysmorphology. 28(2):81-85, April 2019. 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
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 Abstract: Go to Full Text of this Article Free
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: 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 Abstract: 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
Microgastria-limb reduction anomaly with total amelia Stewart, Caroline; Stewart, Moira; Stewart, Fiona Stewart, Caroline; Stewart, Moira; Stewart, Fiona Less Clinical Dysmorphology. 11(3):187-190, July 2002. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy
Ischiospinal dysostosis with cystic kidney disease: report of two cases Nishimura, Gen; Kim, Ok Hwa; Sato, Seiji; More Nishimura, Gen; Kim, Ok Hwa; Sato, Seiji; Hasegawa, Tomonobu Less Clinical Dysmorphology. 12(2):101-104, April 2003. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy
Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement Lugli, Licia; Just, Walter; Genovese, Elisabetta; More Lugli, Licia; Just, Walter; Genovese, Elisabetta; Palma, Silvia; Ferrari, Fabrizio; Percesepe, Antonio Less Clinical Dysmorphology. 24(1):17-20, January 2015. Favorites PDF Get Content & Permissions Buy
Further support for first-trimester disruption causing the oromandibular–limb hypogenesis spectrum of anomalies Milam, Ronald W. Jr; Cabrera, Michelle T.; Carter, Lori A.; More Milam, Ronald W. Jr; Cabrera, Michelle T.; Carter, Lori A.; Warner, Diane D.; Wereszczak, Janice K.; Aylsworth, Arthur S. Less Clinical Dysmorphology. 23(3):101-104, July 2014. Favorites PDF Get Content & Permissions Buy
Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type? Gumus, Evren Gumus, Evren Less Clinical Dysmorphology. 27(4):138-141, October 2018. 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
Kohlschutter syndrome in siblings Donnai, D.; Tomlin, P.I.; Winter, R.M. Donnai, D.; Tomlin, P.I.; Winter, R.M. Less Clinical Dysmorphology. 14(3):123-126, July 2005. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy
A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family Al-Aama, Jumana Y.; Dabbagh, Amal A.; Edrees, Alaa Y. Al-Aama, Jumana Y.; Dabbagh, Amal A.; Edrees, Alaa Y. Less Clinical Dysmorphology. 21(1):1-7, January 2012. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy
A new finding of a tethered cord in a patient with Okamoto syndrome Conteh, Fatu S.; Tyagi, Rachana; Brooks, Susan S. Conteh, Fatu S.; Tyagi, Rachana; Brooks, Susan S. Less Clinical Dysmorphology. 26(2):110-113, April 2017. Favorites PDF Get Content & Permissions Buy
Mild phenotype in a patient with a de-novo 2.9-Mb interstitial deletion at 13q12.11 Tanteles, George A.; Dixit, Abhijit; Smith, Nigel; More Tanteles, George A.; Dixit, Abhijit; Smith, Nigel; Martin, Kate; Suri, Mohnish Less Clinical Dysmorphology. 20(2):61-65, April 2011. Favorites PDF Get Content & Permissions Buy
Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome Hoffman, Hal M.; Bastian, John F.; Bird, Lynne M. Hoffman, Hal M.; Bastian, John F.; Bird, Lynne M. Less Clinical Dysmorphology. 10(1):1-8, January 2001. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy
Mosaic trisomy 22 in a boy with a terminal transverse limb reduction defect Ruiter, E. Mariken; Toorman, Jan; Hochstenbach, Ron; More Ruiter, E. Mariken; Toorman, Jan; Hochstenbach, Ron; de Vries, Bert B.A. Less Clinical Dysmorphology. 13(2):99-102, April 2004. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy
Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance Arpin, Stéphanie; Afenjar, Alexandra; Dubern, Béatrice; More Arpin, Stéphanie; Afenjar, Alexandra; Dubern, Béatrice; Toutain, Annick; Cabrol, Sylvie; Héron, Delphine Less Clinical Dysmorphology. 21(1):11-14, January 2012. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy
Meier-Gorlin syndrome: an additional case report in an adult woman Belaid, Rym; Zouaoui, Hsan; Yazidi, Meriem; More Belaid, Rym; Zouaoui, Hsan; Yazidi, Meriem; Oueslati, Ibtissem; Grira, Wafa; Chaker, Fatma; Chihaoui, Melika Less Clinical Dysmorphology. 28(2):86-90, April 2019. Favorites PDF Get Content & Permissions Buy SDC
Caudothalamic groove cysts in Zellweger syndrome Ünay, Bülent; Kendirli, Tanl; Atac, Kaan; More Ünay, Bülent; Kendirli, Tanl; Atac, Kaan; Gül, Davut; Akn, Rdvan; Gökcay, Erdal Less Clinical Dysmorphology. 14(3):165-167, July 2005. Abstract Abstract Favorites PDF Get Content & Permissions Abstract: Buy
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 Buy
