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Hypertelorism
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
Hypertelorism refers to an interocular distance above the 95th percentile. Causes of hypertelorism include mechanical causes such as premature fusion of the skull bones or a cleft. Genetic syndromes such as craniofrontonasal dysplasia, Apert syndrome, and Crouzon syndrome can have hypertelorism as part of their features. Mild hypertelorism can also be present as an isolated finding with no clinical consequences.
Head and neck
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
Hypertelorism may be due to encephaloceoles, craniosynostosis, facial clefts or bone disorders. Globe repositioning is usually delayed until 4–6 years of age (after consolidation of bones to reduce comminution) unless there are visual problems.
H
Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Hypertelorism [Greek: hyper, above + ie/e, far off + horizo, to separate] Abnormal distance between two paired organs, as in ocular hypertelorism or cranio-facial dystosis. The first account was given by Octave Crouzon (1874–1938) of Paris in 1912. It was described as a separate entity by David Middleton Greig (1864–1936) of Edinburgh in 1924.
Nevoid basal cell carcinoma syndrome: a case report and literature review
Published in Ophthalmic Genetics, 2022
Shripadh Chitta, Jineet Patel, Shravan Renapurkar, Christopher Loschiavo, Jennifer Rhodes, Kayla King, Kimberly Salkey, Natario Couser
Ocular hypertelorism refers to an abnormally increased distance between the eyes, including both the distance between the inner eye corners as well as the distance between pupils. It is a common clinical manifestation of NBCCS and reported in up to 80% of the patients in some studies (4,7). Therefore, it is a minor criterion in the commonly used Kimonis criteria (2). Though there is some evidence that suggests that the prevalence of hypertelorism in these patients has some regional variability (20). An examination of various case reports from East Asian countries found 56% of a combined 227 patients to have hypertelorism while various case reports from North European countries found 26% of 239 patients to have hypertelorism (20). A recent examination of 11 Italian patients found 45.5% to have hypertelorism (21).
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome
Published in Ophthalmic Genetics, 2021
Gökhan Çelik, Bilge Batu Oto, Osman Kızılay, Oğuzhan Kılıçarslan, Handan Hakyemez Toptan
The infant had multiple congenital anomalies; a cleft palate, microcephalia, micrognathia, renal pelvicalyceal ectasia, atrial septal defect, transvers arcus hypoplasia, patent ductus arteriosus, hypospadias, undescended testicle. The patient was consulted to ophthalmology clinic 4 weeks after birth, for having iris coloboma and screening for retinopathy of prematurity (ROP), hence he received intense oxygen therapy due to bronchopulmonary dysplasia. External ophthalmic examination revealed hypertelorism and exotropia. The right eye was normal in biomicroscopic examination but in the left eye an inferiorly localized incomplete iris coloboma was present. Fundus examination revealed optic disc coloboma of both eyes. No fundus images were taken in the first examination, because the patient was diagnosed with basic optic coloboma.
A novel VARS2 gene variant in a patient with epileptic encephalopathy
Published in Upsala Journal of Medical Sciences, 2019
Lucija Ruzman, Ivana Kolic, Jelena Radic Nisevic, Antonija Ruzic Barsic, Ingrid Skarpa Prpic, Igor Prpic
At 5 months of age she developed infantile spasms consistent with hypsarrhythmia on EEG studies. Clinical examinations showed microcephaly with ‘pear-shaped face’, hypertelorism, and a wide nasal bridge. Global motor development was delayed by 2–3 months. Language and social skills were in accordance with the patient’s age. Laboratory findings revealed an increased concentration of alanine in plasma (537 μmol/L, normal range 100–439 μmol/L) and cerebrospinal fluid (36.1 μmol/L, normal range 19.9–31.3 μmol/L), as well as mildly elevated concentrations of lactate in plasma (2.0–5.4 mmol/L, normal range 0.33–2.0 mmol/L) and cerebrospinal fluid (3.0 mmol/L, normal range 1.1–2.8 mmol/) indicative of mitochondrial disorder, while others were normal. Magnetic resonance imaging (MRI) performed at that time revealed diffuse cerebral atrophy with more prominent hypoplasia of the cerebellum (especially vermis), brainstem, and corpus callosum (Figure 1(A)).