Results 81 to 90 of about 235,287 (271)

Primary unilateral cleft lip repair

Indian Journal of Plastic Surgery, 2009
The unilateral cleft lip is a complex deformity. Surgical correction has evolved from a straight repair through triangular and quadrilateral repairs to the Rotation Advancement Technique of Millard.
H. S. Adenwalla, P. V. Narayanan
doaj   +1 more source

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

Comparison of Postoperative Complications and Reoperation Rates of Le Fort I Osteotomies Using Demineralized Bone Matrix (DBM) or Autogenous Bone Grafts in Patients with Orofacial Clefts and Craniofacial Malformations

Dentistry Journal
Background: This study aims to evaluate surgical outcomes and compares the prevalence and severity of postoperative complications and reoperations with maxillary osteotomies, focusing on the effectiveness of fixation with demineralized bone matrix (DBM ...
Noémi Sipos, Junnu Leikola, Arja Heliövaara, Eeva Kormi, Juho Suojanen   +4 more
doaj   +1 more source

Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]

, 2011
Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe, Lugliè, Pietrina Francesca, Sale, Silvana, Spano, Giovanni   +3 more
core   +1 more source

Cleft Lip and Palate

Pediatric Otolaryngology, 2012
Foreword: Shaw, B. Preface: Cobourne, M.T. Epidemiology of Oral Clefts 2011: An International Perspective: Mossey, P.A. Modell, B. Genetic and Environmental Factors in Human Cleft Lip and Palate: Vieira, A.R.
G. Mackay
semanticscholar   +1 more source

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

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

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

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source