Results 31 to 40 of about 5,138 (198)

Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing [PDF]

, 2016
First published: 11 July 2016Abstract not availableChristopher P. Barnett, Nathalie J. Nataren, Manuela Klingler-Hoffmann, Quenten Schwarz, Chan-Eng Chong, Young K. Lee, Damien L. Bruno, Jill Lipsett, Andrew J. McPhee, Andreas W. Schreiber, Jinghua Feng,
Barnett, C., Bruno, D., Chong, C., Feng, J., Hahn, C., Klingler-Hoffmann, M., Lee, Y., Lipsett, J., Mcphee, A., Nataren, N., Schreiber, A., Schwarz, Q., Scott, H.   +12 more
core   +1 more source

SEVERE CONSTRICTED HEAD – AN EXTREME FORM OF CROUZON SYNDROME POSING CHALLENGING FRONTO-ORBITAL ADVANCEMENT: A CASE SERIES REPORTS

Jurnal Rekonstruksi dan Estetik, 2019
Highlights: • Severe Constricted Head in Crouzon Syndrome. • Complex surgical interventions to address severe craniofacial abnormalities in Crouzon syndrome.
Ciptomurti Lupitasari, Lobredia Zarasade, Magda Rosalina Hutagalung   +2 more
doaj   +1 more source

Cranial Base Reconstruction and Secondary Frontal Advancement for Meningoencephalocele Following LeFort III Osteotomy in a Patient with Crouzon Syndrome: Case Report

Archives of Plastic Surgery, 2023
Patients with Crouzon syndrome have increased risks of cerebrospinal fluid rhinorrhea and meningoencephalocele after LeFort III osteotomy. We report a rare case of meningoencephalocele following LeFort III midface advancement in a patient with Crouzon ...
Sungmi Jeon, Yumin Kim, Ji Hoon Phi, Jee Hyuk Chung   +3 more
doaj   +1 more source

A Case of Crouzon's Syndrome with a True Human Tail

Journal of Plastic and Reconstructive Surgery, 2023
A human tail complicated by Crouzon syndrome is extremely rare, with only eight reported cases of human tails associated with Crouzon syndrome. A human tail is defined as a true human tail or a pseudo-human tail according to the presence or absence of ...
Nobuhiro Ando, Nobuyuki Mitsukawa, Minoru Hayashi, Koichi Higaki, Yoshitaka Kubota   +4 more
doaj  

An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome

BMC Medical Genetics, 2018
Background FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon syndrome, involving craniosynostosis and facial dysostosis with shallow orbits. However, few reports are available quantifying the orbital volume
Jiayan Fan, Yinwei Li, Renbing Jia, Xianqun Fan   +3 more
doaj   +1 more source

Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report

Journal of Medical Case Reports, 2023
Background Crouzon syndrome, a rare genetic disorder characterized by premature closure of coronal sutures, results in skull and facial deformities along with abnormal brain and ocular development.
Yuling Niu, Jin Xu, Rushan Ye, Zixian Dai, Ling Jin, Wenwen Geng   +5 more
doaj   +1 more source

Crouzon Syndrome Spanning Three Generations: Advances in the Treatment of Syndromic Midface Deficiency

Plastic and Reconstructive Surgery, Global Open, 2023
Background:. Crouzon syndrome is an autosomal dominant genetic disorder characterized by craniosynostosis, midface retrusion, and exophthalmos. Over the past century, the treatment of craniofacial disorders like Crouzon syndrome has evolved significantly.
Kelly A. Harmon, BS, Jennifer Ferraro, MD, MBA, Nikki Rezania, BA, Taly Carmona, BHS, Alvaro A. Figueroa, DDS, MS, Christina Tragos, MD   +5 more
doaj   +1 more source

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]

, 2016
Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A., Lazić, E., Nedeljković, N., Nikodijević Latinović, A.   +3 more
core   +3 more sources

Orbital causes of incomitant strabismus [PDF]

, 2015
Strabismus may result from abnormal innervation, structure, or function of the extraocular muscles. Abnormalities of the orbital bones or masses within the orbit may also cause strabismus due to indirect effects on the extraocular muscles.
Lueder, Gregg T
core   +7 more sources

Crouzon syndrome with primary optic nerve atrophy and normal brain functions: A case report

Journal of Oral Biology and Craniofacial Research, 2012
Background: This report and review of literature aimed to assess an unusual case of Crouzon syndrome characterized by distinctive disfigurement of craniofacial skeletal and soft tissue structures with primary optic nerve atropy.
Uma Shankar Pal, Chandan Gupta, Arul A.L. Chellappa   +2 more
doaj   +1 more source