Works matching DE "SYNDACTYLY"

Results: 202

Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2025, v. 100, n. 1, p. 86, doi. 10.5114/polp.2025.149052

By:

Ręka, Gabriela;
Górecki, Mateusz;
Wojciechowska, Katarzyna;
Lejman, Monika

Publication type:

Article

Infrared venography of the hand in Apert syndrome.

Published in:

2013

By:

Soh Nishimoto;
Kenji Fukuda;
Toshihiro Fujiwara;
Masato Kinoshita;
Kenichiro Kawai;
Masao Kakibuchi

Publication type:

Case Study

Lobster claw syndrome: A rare entity.

Published in:

2013

By:

Gupta, Shahana;
Kumar, Sanjeev;
Ray, Udipta

Publication type:

Case Study

Amniotic Band Syndrome.

Published in:

Indian Journal of Surgery, 2013, v. 75, n. 5, p. 401, doi. 10.1007/s12262-012-0468-x

By:

Shetty, Prathvi;
Menezes, Leo;
Tauro, Leo;
Diddigi, Kumar

Publication type:

Article

Amniotic Band Syndrome: A Report of Two Cases by a Primary Care Pediatrician.

Published in:

Central European Journal of Paediatrics, 2022, v. 18, n. 1, p. 58, doi. 10.5457/p2005-114.318

By:

Mitrović, Tanja Rozek;
Petrović, Vesna

Publication type:

Article

Particularities and Surgical Treatment of Constriction Band Syndrome Syndactyly, in Children.

Published in:

Medicina Moderna, 2018, v. 25, n. 3, p. 224

By:

Nacea, Doina-Iulia;
Enescu, Dan Mircea;
Stoicescu, Simona Ioana;
Tatar, Raluca Teodora

Publication type:

Article

Long-terme Evaluation of Primary Syndactyly Treatment in Children, Using a Flatt Modified Technique.

Published in:

Medicina Moderna, 2018, v. 25, n. 3, p. 102

By:

Nacea, Doina-Iulia;
Enescu, D. M.;
Stoicescu, Simona

Publication type:

Article

Long-terme Evaluation of Primary Syndactyly Treatment in Children, Using a Flatt Modified Technique.

Published in:

Medicina Moderna, 2015, v. 22, n. 2, p. 102

By:

Nacea, Doina-Iulia;
Enescu, D. M.;
Stoicescu, Simona

Publication type:

Article

A newborn with widespread skin lesions and extremity anomalies.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 4, p. 545, doi. 10.1007/s00431-013-2195-0

By:

Isik, Dilek;
Ozcan, Beyza;
Celik, Ulker;
Aydemir, Ozge;
Erdogan, Kadri;
Hekimoglu, Emre;
Bas, Ahmet;
Demirel, Nihal

Publication type:

Article

Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 11, p. 1467, doi. 10.1007/s00431-013-2071-y

By:

Dai, Limeng;
Guo, Hong;
Meng, Hui;
Zhang, Kun;
Hu, Hua;
Yao, Hong;
Bai, Yun

Publication type:

Article

Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.

Published in:

European Journal of Pediatrics, 2013, v. 172, n. 8, p. 1131, doi. 10.1007/s00431-013-1938-2

By:

Sethi, Sidharth;
Goyal, Deepak;
Khalil, Sumaira;
Yadav, Dinesh

Publication type:

Article

A case of systemic aplasia cutis congenita: a newly recognized syndrome?

Published in:

2008

By:

Sugiura, Tokio;
Kouwaki, Masanori;
Kiyosawa, Shusuke;
Sasada, Yoshie;
Maeda, Matsuyoshi;
Goto, Kenji;
Koyama, Norihisa

Publication type:

journal article

APERT SYNDROME (ACROCEPHALOSYNDACTYLY).

Published in:

2012

By:

Mouli, P. E. Chandra;
Kumar, T. Selva

Publication type:

Case Study

Eritroderma ictiosiforme congénito en un paciente de Medellín, Colombia: Un reporte de caso.

Published in:

Revista ANACEM, 2012, v. 6, n. 3, p. 149

By:

Carlos Escobar, V.;
Díaz-Zuluaga, Ana;
Balparda, Kepa;
Kenny Henao, S.;
Yurany Herrera, G.;
María Mejía, A.;
Laura Prisco, S.;
Carlos Velásquez, G.

Publication type:

Article

Edward's syndrome with a novel karyotype.

Published in:

Bangladesh Journal of Medical Science, 2011, v. 10, n. 3, p. 211, doi. 10.3329/bjms.v10i3.8368

By:

Patra, S.;
Garg, A.;
Gulati, A.;
Krishnamurthy, S.;
Aneja, S.

Publication type:

Article

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome.

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 7, p. 743, doi. 10.1038/sj.ejhg.5201833

By:

Dauwerse, Johannes G;
de Vries, Bert B A;
Wouters, Cokkie H;
Bakker, Egbert;
Rappold, Gudrun;
Mortier, Geert R;
Breuning, Martijn H;
Peters, Dorien J M

Publication type:

Article

Farklı mutasyonlar taşıyan Apert sendromlu iki olgu: erken tanının önemi.

Published in:

Türk Pediatri Arşivi, 2017, v. 52, n. 4, p. 231, doi. 10.5152/TurkPediatriArs.2016.3305

By:

Işık, Esra;
Atik, Tahir;
Onay, Hüseyin;
Özkınay, Ferda

Publication type:

Article

Surgical treatment outcomes in patients with syndactyly in Imam Khomeini Hospital in Tehran, Iran during 1996-2011: a breif report.

Published in:

Tehran University Medical Journal, 2011, v. 69, n. 8, p. 518

By:

Farzan, Mahmood;
Eraghi, Amir Sobhani;
Mazoochy, Hamed;
Zeraati, Zeinab;
Espandar, Ramin

Publication type:

Article

Congenital constriction ring syndrome of the limbs: A prospective study of 16 cases.

Published in:

African Journal of Paediatric Surgery, 2008, v. 5, n. 2, p. 79, doi. 10.4103/0189-6725.44182

By:

Adu, Emmanuel J. K.;
Annan, Charles

Publication type:

Article

Coincidence of Poland's syndrome with Turner's syndrome.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2011, v. 17, n. 1, p. 48

By:

Wikiera, Beata;
Wójcik, Elżbieta;
Szuba, Andrzej;
Noczyńska, Anna

Publication type:

Article

A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.

Published in:

2009

By:

Karaman, Birsen;
Rosti, Rasim Özgür;
Yılmaz, Kader;
Öztürk, Havva;
Kayserili, Hülya;
Başaran, Seher

Publication type:

Case Study

Development of a Fetal Rabbit Model to Study Amniotic Band Syndrome.

Published in:

Fetal & Pediatric Pathology, 2012, v. 31, n. 5, p. 300, doi. 10.3109/15513815.2012.659387

By:

Galvan, Alfonso;
Alvarez, Elizabeth;
Parraguirre, Sara;
Suarez, Ma. Lourdes;
Perez, Araceli

Publication type:

Article

FRASER SYNDROME: A NEW CASE REPORT WITH REVIEW OF THE LITERATURE.

Published in:

Fetal & Pediatric Pathology, 2008, v. 27, n. 2, p. 99, doi. 10.1080/15513810802077628

By:

Eskander, Bishoy S.;
Shehata, Bahig M.

Publication type:

Article

Ectrodactilia que afecta a tres extremidades.

Published in:

Dermatología Revista Mexicana, 2013, v. 57, n. 6, p. 461

By:

Estrada Castañón, Roberto A.;
Chávez López, María Guadalupe;
Estrada Chávez, Guadalupe

Publication type:

Article

Intraoperative tissue expansion as an alternative approach for hand syndactyly management to avoid skin grafts in children.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2018, v. 75, n. 3, p. 290, doi. 10.2298/VSP160624347K

By:

Kravljanac, Djordje;
Simić, Radoje;
Milović, Ivan

Publication type:

Article

Can intravenous acetaminophen reduce the needs to more opioids to control pain in intubated patients?

Published in:

Indian Journal of Critical Care Medicine, 2016, v. 20, n. 8, p. 465, doi. 10.4103/0972-5229.188197

By:

Mahshidfar, Babak;
Sameti, Azadeh;
Abbasi, Saeed;
Farsi, Davood;
Mofidi, Mani;
Hafezimoghadam, Peyman;
Rahimzadeh, Popak;
Rezai, Mahdi

Publication type:

Article

Persistent skin donor site erythema: A simple physiological phenomenon.

Published in:

2014

By:

Sonthalia, Sidharth;
Arora, Rahul;
Sarkar, Rashmi

Publication type:

Letter to the Editor

Ectodermal dysplasia with syndactyly.

Published in:

2012

By:

Keen, Abid;
Hassan, Iffat

Publication type:

Case Study

Poland syndrome (anomaly) with congenital hemangioma: a new association.

Published in:

2006

By:

Riyaz, Najeeba;
Riyaz, A.

Publication type:

journal article

Lobster-claw hand: a manifestation of EEC syndrome.

Published in:

2006

By:

Cyriac, M. J.;
Lashpa, E.

Publication type:

journal article

The bovine aristaless-like homeobox 4 (ALX4) as a candidate gene for syndactyly.

Published in:

Cytogenetic & Genome Research, 2006, v. 115, n. 2, p. 123, doi. 10.1159/000095231

By:

Wöhlke, A.;
Kuiper, H.;
Distl, O.;
Drögemüller, C.

Publication type:

Article

Sfrp2 is a transcriptional target of SREBP-1 in mouse chondrogenic cells.

Published in:

Molecular & Cellular Biochemistry, 2015, v. 406, n. 1/2, p. 163, doi. 10.1007/s11010-015-2434-y

By:

Kim, Mi-Jin;
Lee, Wan;
Park, Seung-Yoon;
Kim, Jung-Eun

Publication type:

Article

ASK TWICE FOR RAYNAUD'S DISEASE BEFORE HAND SURGERY.

Published in:

Turkish Journal of Plastic Surgery, 2012, v. 20, n. 1, p. 33

By:

Fındıkçıoğlu, Kemal;
Fındıkçıoğlu, Fulya

Publication type:

Article

Clinical and radiographic presentation and preparation of the prototyping model for pre-surgical planning in Apert's syndrome.

Published in:

Dentomaxillofacial Radiology, 2006, v. 35, n. 2, p. 119, doi. 10.1259/dmfr/77056158

By:

Sannomiya, E. K.;
Reis, S. A. B.;
Asaumi, J.;
Silva, J. V. L.;
Barbara, A. S.;
Kishi, K.

Publication type:

Article

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome".

Published in:

2012

By:

SHIVAPRAKASH P. K.;
JOSHI, HRISHIKESH V.;
NOORANI, HINA;
REDDY, VENUGOPAL

Publication type:

Case Study

Correction: Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families.

Published in:: PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0104309
Publication type:: Article

Nubp1 Is Required for Lung Branching Morphogenesis and Distal Progenitor Cell Survival in Mice.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044871

By:

Schnatwinkel, Carsten;
Niswander, Lee;
Bellusci, Saverio

Publication type:

Article

Prevalence of polydactyly, syndactyly, amniotic band syndrome, cleft lip, cleft palate and talipes equinovarus in Bayelsa State, Nigeria.

Published in:

GMS Medizinische Informatik, Biometrie und Epidemiologie, 2009, v. 5, n. 2, p. 1

By:

Oyinbo, Charles A.;
Dare, Nervey W.;
Amain, Ebidimie D.

Publication type:

Article

Riga-Fede Disease Associated with Syndactyly and Oligodactyly: A rare Occurrence.

Published in:

2019

By:

Kariya, Pratik B.;
Shah, Swara;
Singh, Sweta;
Buch, Adrija

Publication type:

journal article

Syndromes Caused by the Mutations in GLI3 Gene.

Published in:

Current Pediatric Reviews, 2010, v. 6, n. 4, p. 219, doi. 10.2174/157339610794776195

By:

Naruse, Ichiro;
Ueta, Etsuko;
Sumino, Yoshiki;
Ogawa, Masaya

Publication type:

Article

Síndrome de Pfeiffer tipo 2. Informe de un caso y revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2013, v. 34, n. 1, p. 43

By:

Roldán-Arce, Jorge;
Villarroel-Cortés, Camilo

Publication type:

Article

Fraser Syndrome: Affected Siblings Born to Nonconsanguineous Parents and Diagnosed at Autopsy.

Published in:

Pediatric & Developmental Pathology, 2008, v. 11, n. 3, p. 220, doi. 10.2350/07-04-0254.1

By:

De Jong, Ann;
Warren, Miranda;
Rehrauer, William;
Harter, Josephine;
Baraboo, Melissa;
Chandra, Sunita;
Pauli, Richard M.;
Singer, Don B.;
Fritsch, Michael K.

Publication type:

Article

Revisiting Amniotic Band Sequence: A Wide Spectrum of Manifestations.

Published in:

Fetal Diagnosis & Therapy, 2014, v. 35, n. 1, p. 51, doi. 10.1159/000354616

By:

Barros, M.;
Gorgal, G.;
Machado, A.P.;
Ramalho, C.;
Matias, A.;
Montenegro, N.

Publication type:

Article

EP133 DYSTROPHIC EPIDERMOLYSIS BULLOSA: TREATMENT OF SYNDACTYLIES AND CONTRACTURES.

Published in:

Journal of Wound Management, 2023, v. 24, n. 2, p. 106

By:

Rimdeikaite, Monika;
Rimdeika, Rytis

Publication type:

Article

A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

Published in:

Eye (0950-222X), 2015, v. 29, n. 7, p. 972, doi. 10.1038/eye.2015.74

By:

Huang, X;
Wang, N;
Xiao, X;
Li, S;
Zhang, Q

Publication type:

Article

A Review of the Genetics and Pathogenesis of Syndactyly in Humans and Experimental Animals: A 3-Step Pathway of Pathogenesis.

Published in:

BioMed Research International, 2019, p. 1, doi. 10.1155/2019/9652649

By:

Al-Qattan, Mohammad M.

Publication type:

Article

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.

Published in:

BioMed Research International, 2018, p. 1, doi. 10.1155/2018/4032543

By:

Linpeng, Siyuan;
Liu, Jing;
Pan, Jianyan;
Cao, Yingxi;
Teng, Yanling;
Liang, Desheng;
Li, Zhuo;
Wu, Lingqian

Publication type:

Article

Buschke-Ollendorff Syndrome and Bilateral Cutaneous Syndactyly.

Published in:

Pediatric Dermatology, 2012, v. 29, n. 5, p. 661, doi. 10.1111/j.1525-1470.2011.01417.x

By:

Fernández-Faith, Esteban;
Kress, Douglas;
Piliang, Melissa;
Sachdeva, Mandi;
Vidimos, Allison

Publication type:

Article

ADULT Syndrome Caused by a Mutation Previously Associated with EEC Syndrome.

Published in:

Pediatric Dermatology, 2010, v. 27, n. 6, p. 643, doi. 10.1111/j.1525-1470.2010.01131.x

By:

Avitan-Hersh, Emily;
Indelman, Margarita;
Bergman, Reuven;
Sprecher, Eli

Publication type:

Article

Macrocephaly-Capillary Malformation: A Report of Three Cases and Review of the Literature.

Published in:

Pediatric Dermatology, 2009, v. 26, n. 3, p. 342, doi. 10.1111/j.1525-1470.2009.00924.x

By:

Gonzalez, Mercedes E.;
Burk, Cynthia J.;
Barbouth, Deborah S.;
Connelly, Elizabeth Alvarez

Publication type:

Article