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Pyruvate carboxylase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
In nine patients reported [28], the largest series to date, neurologic features were emphasized. These include axial hypotonia, hypokinesia and slowness of movements a disorder characterized by high amplitude movements of the limbs, usually all of our [28]. Magnetic resonance imaging (MRI) showed high-signal white matter and periventricular cysts. All had lactic acidemia and tachypnea, elevated transaminases, enlarged liver, and in some coagulopathy and hepatic failure. Dysmorphic features included epicanthus, long filtrum, and thin upper lips [27].
Ophthalmological system (eyes)
Published in David Sales, Medical IELTS, 2020
Infants are assessed for strabismus (squint/lazy eye) but this is often difficult to exclude if there is a broad epicanthus (wide bridge of nose and/or fold of skin at the inner angle of each eye) and the diagnosis may require referral for an orthoptic assessment (to assess the movements of the eyes). The aims of treatment for squints in children are to correct any defect of visual acuity, achieve a satisfactory cosmetic appearance (good appearance) and ensure binocular (using both eyes) vision.
Eye
Published in A. Sahib El-Radhi, Paediatric Symptom and Sign Sorter, 2019
Telecanthus (increased width between the medial canthi) and epicanthus inversus (epicanthic folds originating from the lower lid) can cause ptosis. The latter may be inherited as autosomal dominant; affected females are often infertile.
Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies
Published in Orbit, 2023
Mansooreh Jamshidian-Tehrani, Kasra Cheraqpour, Alireza Nezamslami
Common symptoms include ptosis and epicanthus inversus. Punctal agenesis or displacement of the lower puncta has also been reported. In some cases, microphthamia and coloboma were found. The chance of amblyopia and strabismus should be considered in these patients. Mukherjee et al. reported the association of the blepharophimosis syndrome with congenital nasolacrimal duct obstruction in twin sisters in India. Both sisters had nasolacrimal obstruction on the left side. Probing was successful for one of them, and dacryocystorhinostomy was scheduled for the other one due to failed probing.10 Other rare associations include alacrima despite the existing bilateral lacrimal gland in the anatomical position and with a normal size. Thus, lubrication and careful decisions for ptosis surgery are crucial in these patients.11,12
Spectral Domain Optical Coherence Tomography in Detecting Sub-Clinical Retinal Findings in Asian Indian Children with Down Syndrome
Published in Current Eye Research, 2019
Shwetha Mangalesh, Anand Vinekar, Chaitra Jayadev, Vasudha Kemmanu, Meenakshi Bhat, Munusamy Sivakumar, Noel Bauer, Carol Webers, Bhujang Shetty
Visual acuity testing was possible for 17 of the 19 patients. The corrected distance visual acuity (CDVA) ranged from 20/60 to 20/2700. Two patients could not be assessed for visual acuity due to subnormal intelligence and unreliable test results. The visual acuity of the DS cases was found to be lower when compared to that of controls, although not significant (Figure 2). However, we found no correlation between morphological abnormalities in each of the layers versus visual acuity. Anterior segment evaluation revealed diagnoses of epicanthus in all cases and congenital nasolacrimal duct obstruction in four patients. All 19 cases had a clinically normal fundus. None of the controls had any ophthalmic abnormality.
Three cases of molecularly confirmed Knobloch syndrome
Published in Ophthalmic Genetics, 2020
Irina Balikova, Nuri Serdal Sanak, Depasse Fanny, Guillaume Smits, Julie Soblet, Elfride de Baere, Monique Cordonnier
In the occipital region, the patient had an area of a darker coloured skin as an only anomaly (Figure 2c). Mild dysmorphic features were present with bilateral epicanthus and upslanting palpebral fissures. She had congenital hip subluxation. The patient had delayed language development and had learning difficulties. The motor development was normal.