Results 61 to 70 of about 434,230 (174)

Rhinoplasty in a Patient with Nasal Bone Hypoplasia: A Case Report

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum, 2019
Background and Objectives: Nasal bone hypoplasia is a rare hereditary disorder, which seems to be related to other anomalies. This disorder may clearly appear in the appearance of a person by increasing age, and in terms of nasal and psychological ...
Farrokh Savaddar, Fatemeh Amirkanian, Enayatollah Noori, Sajad Rezvan   +3 more
doaj  

Aortic valve disease: Novel animal models for advancing our understanding of the underlying mechanisms

Animal Models and Experimental Medicine, Volume 9, Issue 10, Page 1964-1981, October 2026.
Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou, Xue Liu, Wangxing Hu, Xianbao Liu, Wei Zhu   +4 more
wiley   +1 more source

Electronmicroscopic Observation of the Basement Membrane Zone in Focal Dermal Hypoplasia

, 1996
A 3-month-old boy had reticulated achromic and atrophic skin lesions on the right buttock and thigh, as well as partial syndactyly of the third and fourth toes of the right foot.
방동식
core   +1 more source

A Case of Male Goltz Syndrome

Case Reports in Pediatrics, 2012
We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues.
Bhaswati Ghoshal, Subhrajit Lahiri, Debabrata Nandi   +2 more
doaj   +1 more source

Focal dermal hypoplasia (Goltz syndrome)

Indian Journal of Dermatology, Venereology and Leprology, 2005
A 7-year-old girl born of non-consanguineous marriage was evaluated for facial dysmorphism. She had multiple skeletal anomalies like hypoplasia of the right mandible, narrow nasal bridge with broad tip and unilateral notching of the right ala nasi, concomitant squint and low set ears.
Najeeba, Riyaz, A, Riyaz, Rajesh, Chandran, S V, Rakesh   +3 more
openaire   +2 more sources

Dentofacial Characteristics in Patients With Epidermolysis Bullosa—A Cross‐Sectional Study

Clinical and Experimental Dental Research, Volume 12, Issue 5, October 2026.
ABSTRACT Objectives Epidermolysis bullosa (EB) is a rare genetic disease characterized by skin and mucosal fragility caused by pathogenic variants in structural protein genes. Malocclusions have been previously described in patients with EB, mainly in case reports, with no cohort studies characterizing dentofacial characteristics across all EB types ...
Sebastián Véliz, Susanne Krämer, Colomba Besa‐Witto, Pedro Diz‐Dios   +3 more
wiley   +1 more source

A NONSENSEPORCNMUTATION IN SEVERE FOCAL DERMAL HYPOPLASIA WITH NATAL TEETH

, 2010
Focal dermal hypoplasia (FDH, Goltz syndrome), is an X-linked dominant mesoectodermal developmental disorder, involving skin, skeleton, eyes, teeth, and other organs.
Mártins, Marcia, Basto, Jorge, Lima, Margarida, Barbêdo, Carla, Dias, Cristina; id_orcid, Grzeschik, Karl Heinz, Fortuna, Ana, Cristina Dias, Dorothea Bornholdt, Pinho, Odilia, Carla Barbêdo, Karl-Heinz Grzeschik, Margarida Lima, Jorge Basto, Marcia Mártins, Odilia Pinho, Bornholdt, Dorothea, Ana Fortuna   +17 more
core   +1 more source

Linear Cutaneous and Craniofacial Anomalies in a Female Infant

JEADV Clinical Practice, EarlyView.
Kim H. Tran, Kimia Ameri, Joseph M. Lam
wiley   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source