Results 51 to 60 of about 790 (167)

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia [PDF]

, 2020
Background: Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are
Beelen, N.W.G. (Nicole) van, Bever, Y. (Yolande) van, Brands, T. (Tom), Brooks, A.S. (Alice), Brosens, E. (Erwin), Brouwer, R.W.W. (Rutger), Eussen, H.J.F.M.M. (Bert), Helm, R.M. (Robert) van der, Hofstra, R.M.W. (Robert), Huigh, D. (Daphne), IJcken, W.F.J. (Wilfred) van, IJsselstijn, H. (Hanneke), Kate, C.A. (Chantal) ten, Klein, A. (Annelies) de, Martens, V.K. (Vera K.), Tibboel, D. (Dick), Wijnen, R.M.H. (René)   +16 more
core   +2 more sources

Metacarpophalangeal Pattern Profile Analysis in Sotos Syndrome [PDF]

, 1985
The metacarpophalangeal pattern profile (MCPP) was analyzed on 16 Sotos syndrome patients. A mean Sotos syndrome profile was produced. Correlation studies confirm clinical homogeneity of Sotos syndrome individuals. Discriminant analysis of Sotos syndrome
Butler, Merlin G., Hersh, Joseph H., Hornstein, Lusia, Kittur, Smita, Meaney, F. John   +4 more
core   +1 more source

Apert syndrome (Acrocephalosyndactyly): a case report [PDF]

, 2017
Apert syndrome is named for the French physician. Eugene Apert in 1906 described the syndrome acrocephalosyndactylia. It is a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly of
Kumar, M. Praveen, Saritha, S., Supriya, Sumangala, G.   +2 more
core   +1 more source

Apert syndrome with frontonasal encephalocele [PDF]

, 1985
We describe a female infant with Apert syndrome (acrocephalosyndactyly, type I) and a frontonasal encephalocele with unremarkable family history.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38238/1/1320210422_ftp ...
Barr, Mason, DiPietro, Michael A., Waterson, John R.   +2 more
core   +1 more source

Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature

Journal of Rare Diseases
Background Apert syndrome is a congenital condition characterized by coronal craniosynostosis, ex-orbitism, midface hypoplasia as well as symmetric syndactyly of both feet and hands.
Maimuna Abdatam, Charles John Nhungo, Frank Muhamba, Ally Hamis Mwanga, Larry Akoko, Charles A. Mkony   +5 more
doaj   +1 more source

Apert′s Syndrome: A Rare Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2010
Apert′s syndrome /Acrocephalosyndactyly is a rare, congenital disorder characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly. It is caused by a genetic mutation in the FGFR2 gene on chromosome 10. Although the syndrome has
Madhura Dalal, Naresh C Soni
doaj  

SURGICAL TECHNIQUE FOR COMPLEX SYNDACTYLY IN APERT SYNDROME: A SERIAL CASE [PDF]

, 2019
Highlights: • Complex syndactyly in Apert syndrome, particularly when complicated with synonychia and synostosis, poses a significant surgical challenge.
Agus Santoso Budi, Magda Rosalina Hutagalung, Williams Mesang   +2 more
core   +2 more sources

Extracranial anomalies of the common craniosynostosis syndromes [PDF]

, 1998
This thesis describes the clinical and radiological investigations into the anomalies which occur extracranially in the four most common craniosynostosis syndromes eponymously named Crouzon, Pfeiffer, Apert and Saethre-Chotzen. The anomalies include
Anderson, Peter John
core   +1 more source

Rare diseases and congenital malformations integrated registry in Tuscany-Italy [PDF]

Aims: Rare diseases (RD) are life-threatening or chronically debilitating diseases with prevalence of fewer than 5 cases among 10,000. For these conditions there is lack of scientific information, research, diagnosis, and treatment.
Bianchi, Fabrizio, Pierini, Anna, Pieroni, Federica, Rial, Michela   +3 more
core  

A case of Pfeiffer syndrome. [PDF]

, 2006
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea.
Moon Sung Park, Jae Eon Yoo, Jaiho Chung, Soo Han Yoon, Pfeiffer, Martsolf, Moore, Muenke, Robin, Schell, Teebi, Goodrich, Plomp, Nagase, Sakai, Cohen, Goriely, Stone, Vallino-Napoli, McCarthy, Wilkie, Martsolf, Panthaki, Passos-Bueno, Rutland, Hajihosseini, Bae, Chun, Gripp   +28 more
core   +1 more source