Results 101 to 110 of about 64,652,082 (128)

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly. [PDF]

J Clin Invest
Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, Liu Z, Guo Z, Xu J, Bibo A, Ren D, Yang K, Luo Y, Yang F, Wang G, Xiang Z, Wang Y, Zhan H, Pan H, Hu J, Zhong J, Abou Jamra R, Zacher P, Musante L, Faletra F, Costa P, Zanus C, Couque N, Ruaud L, Cueto-González AM, San Nicolas Fernández H, Tizzano E, Martinez Gil N, Liu X, Liao W, Abi Farraj L, Huang AY, Zhang L, Murali A, Schmuel E, Han CS, King K, Gu W, Wang P, Li K, Link N, He G, Bian S, Mao X.   +48 more
europepmc   +1 more source

Craniofacial development: genetics, signaling pathways, teratogenic mechanisms, and clinal significance. [PDF]

Mol Biomed
Lv X, Du J.
europepmc   +1 more source

Human stem cell model of neural crest cell differentiation reveals a requirement of SF3B4 in survival, maintenance, and differentiation. [PDF]

Dev Dyn
Griffin C, Saint-Jeannet JP.
europepmc   +1 more source

Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies. [PDF]

Front Med (Lausanne)
Zhang H, Liao R, Li Y, Huang F, Li L, Lyu G.   +5 more
europepmc   +1 more source

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome† [PDF]

American Journal of Medical Genetics, Part A, 2009
AbstractTreacher Collins syndrome (TCS, OMIM 154500) is a well‐defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness.
Dietmar R Lohmann, Dagmar Wieczorek, Alma Kuechler   +2 more
exaly   +4 more sources

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Mandibulofacial dysostosis with microcephaly: A case presenting with seizures

Brain and Development, 2017
We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean boy, had microcephaly, malar and mandibular hypoplasia, and deafness. He showed developmental delay and had suffered recurrent seizures beginning at 21months of age. Electroencephalography revealed occasional spike discharges from
Nobuhiko Okamoto, Yasushi Itô, Naomichi Matsumoto   +2 more
exaly   +3 more sources

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

Clinical Dysmorphology, 2006
We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate.
Roseli M Zechi-Ceide, Maria Leine Guion-Almeida   +1 more
exaly   +3 more sources

Mandibulofacial dysostosis with microcephaly syndrome diagnosed by prenatal exome sequencing: a case report

European Gynecology & Obstetrics, 2021
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare gene deletion syndrome caused by a heterozygous pathogenic variant or deletion in the EFTUD2 gene. Typical features described in affected patients include developmental delay, microcephaly, micrognathia, malar hypoplasia, esophageal atresia and congenital heart disease, among others.
Feliu, Silvia, Palacios, Gabriela, Clua, Elisabet, Prats, Pilar, Albaigés, Gerard, Rodriguez, Alberto, Serra, Bernat   +6 more
openaire   +1 more source

Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?

Clinical Dysmorphology, 2001
We report two brothers who presented with mandibulofacial dysostosis, growth retardation, microcephaly, thoracic deformities and conductive hearing loss along with asplenia in one case and aplasia of the gallbladder in the other. The pattern of malformations differs significantly from established syndromes with mandibulofacial dysostosis such as Nager ...
W Henn, W Delb
exaly   +3 more sources

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?

European Journal of Medical Genetics, 2022
Mandibulofacial dysostosis with microcephaly (MFDM, OMIM#610536) is an extremely rare genetic syndrome characterised by microcephaly, external ear deformity, hearing loss, and distinct facial appearance, including zygomatic hypoplasia and micrognathia.
Jae Hui Ryu, Hwa Young Kim, Jung Min Ko, Man Jin Kim, Moon-Woo Seong, Byung Yoon Choi, Jong Hee Chae   +6 more
openaire   +2 more sources