Results 41 to 50 of about 10,363 (272)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Frecuencia de agenesias, dientes supernumerarios y erupción ectópica en radiografías panorámicas en niños de 7 a 10 años, en tres centros odontológicos de Viña del Mar [PDF]

, 2016
Tesis (Cirujano Dentista)El desarrollo de la dentición es un aspecto crucial en la evaluación clínica del paciente odontológico infantil. Este desarrollo comienza con la odontogénesis, la cual corresponde a una serie de procesos embriológicos, que ...
Abde J., Karime, Marín J., Alejandra
core  

Wildervanck syndrome [PDF]

, 2008
O artigo relata o caso clínico de uma criança do sexo feminino, cinco anos de idade que apresenta a rara síndrome de Wilderwanck que consiste da síndrome de Klippel-Feil associada à síndrome de Duane e deficiência auditiva.
CAPELLA, João Luís Curvacho, YAMANE, Iris de Souza, YAMANE, Yoshifumi   +2 more
core   +2 more sources

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Total agenesis of the corpus callosum in a patient with childhood-onset schizophrenia Agenesia completa de corpo caloso em um paciente com esquizofrenia de início na infância

Arquivos de Neuro-Psiquiatria, 2007
The hypothesis that schizophrenia involves aberrant inter-hemispheric communication has a long pedigree, however its precise role remains unclear. We therefore report the case of a total agenesis of the corpus callosum in a 21-year-old man with childhood-
Jaime Eduardo Cecilio Hallak, José Alexandre de Sousa Crippa, Joel Porfírio Pinto, João Paulo Machado de Sousa, Clarissa Trzesniak, Serdar Murat Dursun, Phillip McGuire, John Francis William Deakin, Antonio Waldo Zuardi   +8 more
doaj   +1 more source

Dentomaxillofacial sequelae in a child treated for rhabdomyosarcoma [PDF]

, 2009
O rabdomiosarcoma é o sarcoma de tecidos moles mais comum em crianças e adolescentes. A multimodalidade terapêutica para tumores de cabeça e pescoço, embora eficaz, pode resultar em uma variedade de complicações orais, com efeito significativo sobre o ...
Figueiredo, Paulo Tadeu de Souza, Leite, André Ferreira, Melo, Nilce Santos de, Mestrinho, Heliana Dantas, Rodrigues, Gerlídia Araújo, Silva, Eliete Neves da, Soares, Paula   +6 more
core  

Kallmann syndrome: a hystorical, clinical and molecular review [PDF]

, 2008
Kallmann syndrome (KS), the association of hypogonadotropic hypogonadism and anosmia, was described by Maestre de San Juan in 1856 and characterized as a hereditary condition by Franz Josef Kallmann in 1944.
Albuisson J, Bagatell CJ, Bardin CW, Bauman A, Bulow HE, Chryssikopoulos A, Davidson TM, De Morsier G, Dode C, Dode C, Dode C, Doty RL, Filippi G, Franco B, Fromantin M, Gonzalez-Martinez D, Gonzalez-Martinez D, Groth C, Hardelin JP, Hebert JM, Hipkin LJ, Julio Abucham, Kadva A, Kallmann FJ, Kramer PR, Legouis R, Li M, Lin DC, Maestre de San Juan A, Matsuo T, Mayston MJ, Meitinger T, Miura K, Muenke M, Muller-Hill B, Naftolin F, Okubo K, Oliveira LM, Parenti G, Pawlowitzki IH, Pitteloud N, Pitteloud N, Pitteloud N, Quinton R, Quinton R, Quinton R, Rezvani I, Ribeiro RS, Rogol AD, Rogério Silicani Ribeiro, Rowe RC, Rugarli EI, Sato N, Schwanzel-Fukuda M, Schwanzel-Fukuda M, Seminara SB, Simon MA, Soussi-Yanicostas N, Soussi-Yanicostas N, Trarbach EB, Trarbach EB, Vermeulen A, Waldstreicher J, Wray S   +63 more
core   +3 more sources

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Agenesia de artéria pulmonar direita

Medicina, 2020
A agenesia de artéria pulmonar é uma malformação congênita rara, que ocorre devido ao não desenvolvimento do sexto arco aórtico. Entretanto, não é relacionada com malformações cardíacas.
Ingred Stephany Domingues da Silva, Eugênio Fernandes de Magalhães, Letícia Carolina Malaquias Pereira, Luiza de Castro Cançado Braga, Victor Zenatti Femía, Cairo Barcelos Alves Serrano, Ana Luíza Rezende Collani, Paula Vieira Penha   +7 more
doaj   +1 more source