Results 41 to 50 of about 12,560 (202)

Hypertelorism [PDF]

, 2020
openaire   +2 more sources

Wolf–Hirschhorn syndrome – a case report

Pediatria i Medycyna Rodzinna, 2017
Wolf–Hirschhorn syndrome is a severe genetic condition that affects many systems of the human body. The genetic mechanism is based on the deletion of the distal portion of the short arm of chromosome 4 (4p).
Halyna Bulak, Dzwenyslava Kopanska
doaj   +1 more source

Hypertelorism-hypospadias Syndrome (Opitz Syndrome)

, 1984
Hypertelorism-hypospadias Syndrome (Opitz ...
Petrelli, N. Eros, Marçallo, Francisco Antônio, Pilotto, Rui Fernando   +2 more
core   +1 more source

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

Late results of hypertelorism correction

, 1997
The late results of patients who were operated on for the correction of hypertelorism were evaluated. Follow-up ranged between 1 and 11 years (mean, 4.3 years). The mean interorbital distance was 32.9 mm preoperatively and 26.7 mm postoperatively.
Guner, U, Songur, E, Alper, M, Kececi, Y, Totan, S, Mutluer, S   +5 more
core   +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

Association of Hypertelorism in Children with Congenital Acyanotic Heart Diseases

, 2014
The study was done over a period of 2012-2013 in the Department of Paediatric Medicine, Medical College Hospital, Kolkata. 100 patients (Cases: 50 patients with congenital acyanotic heart disease. Control: 50 patients without it) of age group 6 months to
Bhattacharjee, S, Ghorai, S
core   +1 more source

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

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