Results 61 to 70 of about 28,866 (195)

Anesthesia and Airway Management in Two Cases of Apert Syndrome: Case Reports

Eurasian Journal of Medicine, 2019
Apert syndrome is a type of acrocephalosyndactilia that consists of craniofacial synostosis, midface hypoplasia and syndactyly, with an autosomal dominant inheritance pattern.
Canan Atalay, Nazım Doğan, Şahin Yüksek, Ali Fuat Erdem   +3 more
doaj  

A de novo duplication of chromosome 21q22.11→qter associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objectives: To present prenatal diagnosis and molecular cytogenetic characterization of de novo partial partial trisomy 21q (21q22.11→qter) associated with clinodactyly and hypoplastic midphalanx of the fifth fingers, midface hypoplasia, and an ...
Chih-Ping Chen, Hsu-Kuang Huang, Pei-Ying Ling, Yi-Ning Su, Ming Chen, Fuu-Jen Tsai, Pei-Chen Wu, Schu-Rern Chern, Yu-Ting Chen, Chen-Chi Lee, Wayseen Wang   +10 more
doaj   +1 more source

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

Journal of Clinical Laboratory Analysis, Volume 40, Issue 19, October 2026.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada, Horacio Rivera, Luis E. Figuera, Patricio Barros‐Núñez, José Luis Castrillo, Carlos Córdova‐Fletes, Thania Alejandra Aguayo‐Orozco   +6 more
wiley   +1 more source

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis

, 2019
International audienceThe AMME syndrome defined as the combination of Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis (AMME) is known to be a contiguous gene syndrome associated with microdeletions in the region Xq22.3q23.
Satre, Véronique, Dieterich, Klaus, Barro, Claire, Adouard, Véronique, Jouk, Pierre‐simon, Poreau, Brice, Harbuz, Radu, Thevenon, Julien, Coutton, Charles, Vettier, Claire, Touraine, Renaud, Ramond, Francis   +11 more
core   +1 more source

Limitations of Internal Distraction Devices in Mature Patients with Cleft Lip and Palate and Severe Midface Hypoplasia [PDF]

Journal of Maxillofacial and Oral Surgery, 2011
We evaluated case-sensitive limitations of internal distraction devices (IDDs) to reveal further options for satisfactory outcomes.Two male cleft patients aged 22 years (P1) and 20 years (P2) with severe maxillary hypoplasia were treated over 18 months.
Jan, Rustemeyer, Alexander, Busch, Andreas, Bremerich   +2 more
openaire   +2 more sources

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Patracia Nevondwe, Maria Mudau, Heather Seymour, Robyn Kerr, Zané Lombard, Amanda Krause, Nadia Carstens   +6 more
wiley   +1 more source

Distraction Osteogenesis in the Midface and Maxilla

Lengthening and three-dimensional expansion the maxilla and midface by distraction osteogenesis (DOG) has become an accepted treatment to correct severe maxillary and midface hypoplasia (Wiltfang et al., Br J Oral Maxillofac Surg 40:473-9, 2002 ...
Timmer, Veronique C.M.L., Kessler, Peter
core   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, Volume 46, Issue 10, Page 1637-1647, September 2026.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

Smith-Magenis Syndrome: Self-Hugging Behavior

Pediatric Neurology Briefs, 1994
A self-hugging behavior is described in 11 patients with Smith-Magenis syndrome (SMS) examined at Elwyn, PA, and the Alfred I du Pont Institute, Wilmington, Delaware.
J Gordon Millichap
doaj   +1 more source