Results 31 to 40 of about 16,006 (225)

Ocular Manifestations of Loeys–Dietz Syndrome

European Medical Journal Rheumatology, 2022
Loeys–Dietz syndrome (LDS) is caused by connective tissue mutations; the resulting defective connective tissue in organs such as the eye may be related to ocular symptoms in patients with LDS.
Katherine Loomba, Daniela Lin, Willis Lin, Bernadette Riley   +3 more
doaj   +1 more source

Central nervous system abnormalities on midline facial defects with hypertelorism detected by magnetic resonance image and computed tomography Anomalias de sistema nervoso central em defeitos de linha média facial com hipertelorismo detectados por ressonância magnética e tomografia computadorizada

Arquivos de Neuro-Psiquiatria, 2006
The aim of this study were to describe and to compare structural central nervous system (CNS) anomalies detected by magnetic resonance image (MRI) and computed tomography (CT) in individuals affected by midline facial defects with hypertelorism (MFDH ...
Vera Lúcia Gil-da-Silva-Lopes, Silvio David Araújo Giffoni   +1 more
doaj   +1 more source

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]

, 2007
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM, Brain, C, Dillon, MJ, Richards, A   +3 more
core   +1 more source

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]

, 2013
Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, Lopez-Gonzalez, Vanesa, Malfait, Fransiska, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, Symoens, Sofie   +9 more
core   +2 more sources

Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management

Indian Journal of Paediatric Dermatology
Gorlin–Goltz syndrome is a rare autosomal dominant disorder caused by an inactivating mutation of the patched 1 gene. Patients could present as early as infancy with varied presentation and multiple basal cell carcinoma.
Adarsh Vijayakumar, Rashmi Mary Philip, Sebastian Criton   +2 more
doaj   +1 more source

Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB Auditory findings and electrophysiologics in individuals with G/BBB syndrome

Brazilian Journal of Otorhinolaryngology, 2011
A síndrome G/BBB é uma condição rara, caracterizada por hipertelorismo, fissura de lábio e palato e hipospádia. Não foram encontrados trabalhos sobre a audição em indivíduos com esta síndrome.
Tatiana Vialôgo Cassab, Sthella Zanchetta, Célia Maria Giacheti, Neivo Luiz Zorzetto, Antonio Richieri-Costa   +4 more
doaj   +1 more source

Baraitser-Winter cerebrofrontofacial syndrome [PDF]

, 2016
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems.
Baraitser, Belyantseva, Bergeron, Bunnell, Bunnell, Cheever, Der Kaloustian, Di Donato, Di Donato, Drummond, Dugina, Dugina, Fletcher, Forbes, Fryns, Gearing, Ghosh, Gomez, Guion-Almeida, Hundt, Johnston, Karakozova, Koçak Eker, Lohr, Perrin, Perrin, Poirier, Ramer, Rendtorff, Retterer, Rivière, Rossi, Skalicky, Sonnemann, Stern, Verloes, Wijk, Winter, Yamazaki, Zhang   +39 more
core   +2 more sources

Diprosopus dirrhinus: A rare case report

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Diprosopus or craniofacial duplication is an extremely rare craniofacial anomaly. It is the rarest form of conjoined twins. One of the types of incomplete facial duplication is the duplication of nose known as diprosopus dirrhinus, of which there is only
Prabir Kumar Jash, Debarati Chattopadhyay, Nonavinakere Prabhakera Sunil, Souradip Gupta   +3 more
doaj   +1 more source

Leopard syndrome without lentigenes: A rare presentation and literature review

Journal of Integrative Medicine and Research
Leopard syndrome (LS) has presentations of lentigines, conduction abnormalities in the heart, hypertelorism of the eyes, stenosis of the pulmonary artery, cryptorchidism, mental retardation, and sensorineural deafness.
Nikhila Gannavarapu, Preetinanda Parida, P. N. V. Sneharika, Sebaranjan Biswal, Ambika Prasad Mohanty, Nirmal Kumar Mohakud   +5 more
doaj   +1 more source

Bilateral cleft lip and palate, hypertelorism with agenesis of corpus callosum

Indian Journal of Dental Research, 2016
Agenesis of corpus callosum (ACC) can have various development abnormalities spectrum. These include delay in milestones to complex neuropsychiatric manifestations.
S M Balaji
doaj   +1 more source