Results 41 to 50 of about 59,130 (275)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Methylene Blue Injection for Pain Reduction at Iliac Crest Donor Sites: A Randomized Trial and Meta-analysis

Plastic and Reconstructive Surgery, Global Open
Background:. Postoperative pain and gait disturbance after iliac bone grafting for alveolar clefts significantly impact patients’ quality of life. This study investigated the effect of methylene blue on postoperative analgesia and conducted a meta ...
Cheng Yao, MD, Yilue Zheng, MD, Haizhou Tong, MD, Di Wu, MD, Weiyi Sun, MD, Shuxiu Chen, MD, Yongqian Wang, MD, Tao Song, MD   +7 more
doaj   +1 more source

Cleft Lip and Palate Surgery [PDF]

Scandinavian Journal of Surgery, 2003
The surgical procedures addressing the problems with the unilateral cleft lip and palate do all include a technique for lengthening the skin of the lip in the cleft area. This procedure can vary according to the preference of the surgeon. The best known are those according to Millard, Tennison and Skoog.
openaire   +2 more sources

Success and Failure for Children Born with Facial Clefts in Africa: A 15-Year Follow-up [PDF]

, 2018
Background: This study reviews the 15year program of our Department of Pediatric Surgery for the treatment and follow-up of children born with a cleft in Benin and Togo. Methods: We analyzed files of children born in Africa with a cleft.
Bossou, Raymond, de Buys Roessingh, Anthony, Dolci, Mirko, Hohlfeld, Judith, Meyrat, Blaise-Julien, Zbinden-Trichet, Chantal   +5 more
core  

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

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

A Novel Voxel-based Technique for 3-Dimensional Transparent Visualization of Lip–Nasal Vasculature

Plastic and Reconstructive Surgery, Global Open
Summary:. Conventional imaging cannot capture the spatial relationship between soft tissue and vasculature in patients with cleft lip. Here, a novel technique integrating micro–computed tomography imaging with voxel-based 3-dimensional reconstruction was
Hongru Zhou, MD, Yu Yao, MD, Congxiao Zhu, MD, Leheng Jiang, MD, Yilue Zheng, MD, Hengyuan Ma, MD, Liya Jiang, MD, Ningbei Yin, MD   +7 more
doaj   +1 more source

Profile of post operative cleft lip and palate in aceh cleft lip and palate center period of November 2018 - October 2019

JKS (Jurnal Kedokteran Syiah Kuala), 2022
Cleft Lip and Cleft Palate or Orofacial Cleft, which is known as the cleft lip is a condition of birth defects where an unusual opening or cleft is formed on the lips or palate.1 Cleft lip or labioschisis is a congenital anomaly that formed in the first ...
Syamsul Rizal, Mirnasari Amirsyah, T. Romi Imansyah Putra, Rezania Razali, Doni Permana Putra   +4 more
doaj   +1 more source

Local expression of inflammatory cytokines in the facial tissue of children with a cleft lip and palate [PDF]

, 2012
The cleft lip and/or palate are among the most common congenital anomalies that occur in early development. Cytokines play an important role in the proliferation, growth, differentiation, survival and the functional activity of many cells and the ...
Akota, Ilze, Pilmane, Mara, Smane, Liene
core   +3 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source