Results 61 to 70 of about 118,048 (294)

Comparison of two different secondary rhinoplasties in patients with complete unilateral cleft lip and palate

BMC Surgery
Background The purpose of this study was to analysis the nostril symmetry and nasal stability following secondary rhinoplasty performed with either nasal septal cartilage implantation (G1) or simple alar cartilage suspension and internal fixation (G2) in
Shuxia Dong, Yulang Xu, Ni Zeng, Chenghao Li, Yang Li, Yan Wang, Bing Shi, Qian Zheng   +7 more
doaj   +1 more source

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome

Plastic and Reconstructive Surgery, Global Open, 2018
Background:. Ectrodactyly ectodermal dysplasia-cleft syndrome is a rare genetic syndrome with an incidence of 1/90,000 live births, characterized by cleft lip and palate, severely hypoplastic maxilla, and hypodontia.
Adi Rachmiel, DMD, PhD, Shahar Turgeman, DMD, Omri Emodi, DMD, Dror Aizenbud, DMD, Dekel Shilo, DMD, PhD   +4 more
doaj   +1 more source

Bilateral microform cleft lip [PDF]

, 2006
Microform cleft lip (MCL), also called congenital healed cleft lip or cleft lip "frustré", is a rare congenital anomaly. MCL has been described as having the characteristic appearance of a typical cleft lip which has been corrected in utero. We present a
Attard Montalto, Simon, Grech, Victor E., Pace, David   +2 more
core  

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Treatment timing and multidisciplinary approach in Apert syndrome [PDF]

, 2015
Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO, DI GIORGIO, GIANNI, FADDA, Maria Teresa, IERARDO, GAETANO, LADNIAK, BARBARA, RAPONI, INGRID, SILVESTRI, ALESSANDRO   +6 more
core   +2 more sources

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Association of cervical vertrebra anomalies with cleft lip and palate

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Introduction: The aim of the present study was to evaluate the developmental relationship in the vertebral column in the cervical region and to relate its association in patient′s with cleft lip and palate.
Mudita Srivastava, Anshul Aggarwal, Puneet Batra, Sangeev Datana, Prasanna Kumar, Klara Agneta Macrcusson   +5 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

A study of the attitudes of mothers toward children born with a cleft palate [PDF]

, 1961
Thesis (M.S.)--Boston ...
Davis, Anmarie
core  

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