Results 41 to 50 of about 1,915 (178)

Syndactyly in Pigs: A Review of Previous Research and the Presentation of Eight Archaeological Specimens [PDF]

, 2011
This paper reviews evidence for the rare condition of porcine syndactyly. It describes eight archaeological examples from Britain, Northern Ireland and France. Syndactyly refers to the partial or complete fusion of two or more adjacent phalanges on the
Adrian, Agerholm, Aksenov, Alvord, Bagg, Baker, Baker, Bargai, Barr, Bateson, Bean, Beckman, Brothwell, Bähr, Camus, Cantemir, Carter, Center, Cornevin, Crummy, Cuvier, Dallman, Dao, Darwin, Darwin, De Bie, Dennis, Detlefsen, Devries, Drögemüller, Drögemüller, Eldridge, Ernout, Eubel, Farmer, French, Fujimoto, Ger, Ghadami, Ghetie, Goodrich, Greuse, Groves, Grüneberg, Hampton, Harcourt, Harris, Hart-Elcock, Hays, Hill, Hollander, Honein, Hurlin, Huston, Huston, Iwamoto, Jaap, Johnson, Kadam, Kalter, Kaul, Kosswig, Kozin, Lapin, Lauschke, Leclerc de Buffon, Leipold, Leipold, Leipold, Leipold, Leipold, Leipold, Lemus, Lynch, Lyne, Man, Morris, Motohashi, Nelson, Ojo, Ossent, Peck, Primack, Renoy, Resnick, Rollor, Ross, Rothschild, Roy, Scott, Siegel, Soderberg, Stewart, Stiles, Struthers, Sultan, Swainson, Taura, Thompson, Towle, Vasilescu, Walker, Warkany, Warkany, Warren, Welg, Whewell, Wiesner, Wöhlke   +108 more
core   +2 more sources

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, Volume 109, Issue 3, Page 424-436, March 2026.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 more
wiley   +1 more source

Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family

Indian Journal of Paediatric Dermatology
Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands along with ectrodactyly and clefting of lip/palate.
Shivani Ranjan, Neha Akhoon
doaj   +1 more source

Malformation in three anuran species from a preserved remnant of Atlantic Forest in southeastern Brazil [PDF]

Neotropical Biology and Conservation, 2019
Records of malformation in amphibians have significantly increased on a global scale. The main causes of malformations are linked to environmental contaminants, and records in preserved environments are uncommon. We reported malformations in three anuran
Alexander Tamanini Mônico, Thiago Silva-Soares, Esteban Diego Koch   +2 more
doaj   +3 more sources

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. [PDF]

, 2016
IMPORTANCE: Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and sparse scalp hair.
Arno, G, Broadgate, S, Halford, S, Holder, GE, Hull, S, Khan, KN, McKibbin, M, Michaelides, M, Moore, AT, Plagnol, V, Robson, AG, Webster, AR   +11 more
core   +1 more source

Long‐Term Clinical and Physiological Outcomes in Patients Treated Non‐Surgically for Anorectal Malformations

Neurogastroenterology &Motility, Volume 37, Issue 12, December 2025.
The long‐term anorectal outcomes of non‐surgically treated patients diagnosed with minor types of ARM seem optimal. Most of these patients experience no constipation or fecal incontinence; some experience constipation and relatively seldom fecal incontinence. Furthermore, most patients possess all the known fecal continence mechanisms.
Venla E. C. den Hollander, Steffie Gerritsen, Monika Trzpis, Paul M. A. Broens   +3 more
wiley   +1 more source

Familial Ectrodactyly Syndrome in a Nigerian Child: A Case Report

Oman Medical Journal, 2011
Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide.
Abdulrasheed Adegboye, Olugbenga Ayodeji Mokuolu, Samuel Kolade Ernest, Omotayo Adesiyun, Adeline Adaje, Sefiyah Yahaya-Kongoila, Muhammed Adeboye, Mathew Durowaye   +7 more
doaj  

Four Unusual Cases of Congenital Forelimb Malformations in Dogs

Animals, 2021
Four dogs were presented with thoracic limb deformity. After clinical and radiographic examinations, a diagnosis of congenital malformations was performed for each of them.
Simona Di Pietro, Giuseppe Santi Rapisarda, Luca Cicero, Vito Angileri, Simona Morabito, Giovanni Cassata, Francesco Macrì   +6 more
doaj   +1 more source

De Novo Missense Variant in TP63 Gene: Insights on Clinical and Molecular Investigations

The Journal of Gene Medicine, Volume 27, Issue 11, November 2025.
We report a heterozygous missense variant (c.184G〉C, p.Val62Leu) in exon 2 of the TP63 gene in a male patient with ectodermal dysplasia characterized by hypohidrosis, sparse hair, tooth agenesis, cleft lip/palate, hearing loss, and syndactyly. The variant was absent from public databases and unaffected relatives.
Jilong Chen, Xufeng Xi, Xiaoman Xu, Yao Lin   +3 more
wiley   +1 more source