Results 81 to 90 of about 5,209 (186)

Clues from Crouzon: Insights into the potential role of growth factors in the pathogenesis of myelinated retinal nerve fibers. [PDF]

, 2016
PurposeWe present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2.
Akil, Handan, Apinyawasisuk, Supanut, Garcia, Giancarlo A, Kim, Sarah, Sadun, Alfredo A, Tian, Jack J   +5 more
core   +3 more sources

The Genetics of Acne

Annals of Human Genetics, Volume 89, Issue 5, Page 333-341, September 2025.
ABSTRACT This review addresses the genetics of acne vulgaris, the most common skin disease. It is characterized by the presence of comedones (blackheads), papules, and pustules. The condition is associated with sebaceous glands in the face and chest, which produce an oily substance called sebum.
Maurice A. M. Van Steensel
wiley   +1 more source

Apert's syndrome.

Indian journal of dermatology, venereology and leprology, 2007
Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, mid-facial malformations and symmetrical syndactyly. We present a 2-month-old girl having features of Apert's syndrome, with cerebral cortical atrophy and bifurcation of the right first metatarsal base, a hitherto undescribed finding.
Amiya Kumar Mukhopadhyay, Debjani Mukherjee   +1 more
openaire   +1 more source

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

Parental knowledge and attitudes toward genetic counseling and childhood genetic testing for congenital anomalies in Qatar

Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract This study aims to evaluate parental knowledge and attitudes toward genetic counseling and testing in the context of pediatric plastic surgery in Qatar. It assesses baseline knowledge to identify educational gaps and factors that may contribute to fear or reluctance in managing children with congenital anomalies.
Houda M. Alkilani, Karen El‐Akouri, Abdulaziz Farooq, Zumin Shi, Mashael Al‐Shafai, Mitchell Stotland, Houssein Khodjet‐El‐khil   +6 more
wiley   +1 more source

Classification of Subtypes of Apert Syndrome, Based on the Type of Vault Suture Synostosis

Plastic and Reconstructive Surgery, Global Open, 2019
Background:. Apert syndrome patients are different in clinical pathology, including obstructive sleep apnea, cleft palate, and mental deficiency. These functional deficiencies may be due to anatomic deformities, which may be caused by different forms of ...
Xiaona Lu, MD, Rajendra Sawh-Martinez, MD, MHS, Antonio Jorge Forte, MD, Robin Wu, BS, Raysa Cabrejo, BS, Alexander Wilson, BS, Derek M. Steinbacher, MD, DMD, Michael Alperovich, MD, Nivaldo Alonso, MD, PhD, John A. Persing, MD   +9 more
doaj   +1 more source

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability [PDF]

, 2015
Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development.
Forecki, J. (Jennifer), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Leguin, M. (Maarten), Mathijssen, I.M.J. (Irene), McGowan, S.J. (Simon J.), Merzdorf, C.S. (Christa S.), Miller, K.A. (Kerry A.), Ouweland, A.M.W. (Ans) van den, Pauws, E. (Erwin), Richardson, I.C.A. (Ivy C.A.), Spek, P.J. (Peter) van der, Swagemakers, S.M.A. (Sigrid), Twigg, S.R.F. (Stephen), Van antwerp, D. (Daniel), Wall, S.A. (Steven), Westbury, I. (Isabelle), Wilkie, A.O.M. (Andrew)   +17 more
core   +1 more source

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

Frontiers in Genetics, 2018
Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome ...
Yahong Li, Dingyuan Ma, Yun Sun, Lulu Meng, Yanyun Wang, Tao Jiang   +5 more
doaj   +1 more source

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   +3 more sources