Results 71 to 80 of about 2,045 (160)

Correlation between otitis media with effusion and cranial deformation in children [PDF]

, 2019
OBJECTIVE: Otitis media with effusion (OME), defined as the presence of fluid in the ear without signs of an acute infection, usually occurs after acute otitis media and could result in reduced sound transmission with hearing loss.
Turchetta, R, Orlando, MP, Passali F. M., Orlando M. P., Turchetta R., Bonanno M. A., Bonanno, MA, Russo F. Y., Tattoli M., Ralli M., Tattoli, M, Ralli, M, De Vincentiis, M, Russo, FY, Passali, FM, Minni, A, Minni A., de Vincentiis M., Greco, A, Greco A.   +19 more
core   +1 more source

Validating the Accuracy of the ‘Measurement of Baby's Head Shape™’ Mobile Application

IEEJ Transactions on Electrical and Electronic Engineering, Volume 20, Issue 11, Page 1705-1716, November 2025.
In Japan, positional cranial deformities (PCD) have received limited attention. At present, objective evaluation of the severity of cranial deformity requires specialized equipment and software that are not suitable for screening. The ‘Measurement of a baby's head shape™’ (Japan Medical Company) application quantifies plagiocephaly and brachycephaly ...
Atsuko Nakahari, Shigeharu Hosono, Akira Gomi, Isao Kusakawa, Ichiro Tanaka   +4 more
wiley   +1 more source

The relationship of articular eminence and mandibular fossa morphology to facial profile and gender determined by cone beam computed tomography

, 2020
The aim of this study was to evaluate the relationship of the morphology of the articular eminence and mandibular fossa to facial profile and sex by using cone beam computed tomography (CBCT) images.
Roque-Torres, Gina Delia, Verner, Francielle Silvestre, Bovi Ambrosano, Glaucia Maria, Freitas, Deborah Queiroz, da Costa, Eliana Dantas, Ramirez-Sotelo, Laura Ricardina, Peyneau, Priscila Dias   +6 more
core   +1 more source

Family case of Potocki-Lupski syndrome

Molecular Cytogenetics
Background Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2.
L. N. Kolbasin, T. A. Dubrovskaya, G. B. Salnikova, E. N. Solovieva, M. Yu. Donnikov, R. A. Illarionov, A. S. Glotov, L. V. Kovalenko, L. D. Belotserkovtseva   +8 more
doaj   +1 more source

Am J Med Genet A

, 2009
Deletions of chromosome bands 2p11.2 and 2p12 are rare, and only six patients have been reported to date. Here, we report on a 5-year-old girl with an 11.4 Mb interstitial deletion of chromosome bands 2p11.2-p12 and the characterization of this deletion ...
Neitzel, H., Tzschach, A., Konrat, K., Ullmann, R., Richter, R., Graul-Neumann, L., Ebert, G.   +6 more
core   +1 more source

Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.

, 2006
Cranioectodermal dysplasia (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo ...
MELZI ML, EMMA F., CALLEA F, TORRE G, DIOMEDI CAMASSEI F, ZAFFANELLO, Marco   +5 more
core   +1 more source

SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review

Heliyon
SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of ...
Tina Yee-Ching Chan, Ling-Yin Hung, Tiffany Yan-Lok Lam, Bun Sheng, Frank Ying-Kit Leung, Hencher Han-Chih Lee   +5 more
doaj   +1 more source

Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome

Case Reports in Surgery, 2016
Introduction. Bloom syndrome (BS) is an inherited disorder due to mutation in BLM gene. The diagnosis of BS should be considered in patients with growth retardation of prenatal onset, a photosensitive rash in a butterfly distribution over the cheeks, and
Carlos Augusto Real Martinez, Lilian Vital Pinheiro, Debora Helena Rossi, Michel Gardere Camargo, Maria de Lourdes Setsuko Ayrizono, Raquel Franco Leal, Cláudio Saddy Rodrigues Coy   +6 more
doaj   +1 more source

Early Diagnosis of Klinefelter Syndrome: the Importance of Genetic Counseling [PDF]

Introduction Klinefelter syndrome is associated with a numerical abnormality involving the sex chromosomes, and has an estimated prevalence of 1:660 in live male births. We present here a child with karyotype 48,XXXY/49,XXXXY diagnosed early with genetic
Mesquita Gadelha Prazeres, Vania, Fantin, Cleiton, C Benzaquem, Denise   +2 more
core   +1 more source

Clinical case of Zhu–Tokita–Takenouchi–Kim syndrome

Анналы клинической и экспериментальной неврологии
Zhu–Tokita–Takenouchi–Kim syndrome is an extremely rare hereditary disorder belonging to the group of nuclear speckleopathies with an autosomal dominant inheritance pattern. To date, only approximately 87 confirmed cases have been described in the global
Natalya A. Belykh, Maria D. Krukovskaya, Georgy B. Krukovsky, Inna V. Piznyur, Anastasia S. Zhdankina   +4 more
doaj   +1 more source