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944 Possible Causes for Severe Hypertelorism

  • Frontonasal Dysplasia

    We report a case of type I frontonsal dysplasia in a 15-year old boy after the correction of severe hypertelorism, median nasal cleft w ith a broad nasal root and associated[] The main features were severe hypertelorism, downward slanted palpebral fissures, bilateral epicanthal folds, a grossly deformed nose with notched alae nasi, absent nasal[]

  • Hypertelorism

    Eleven cases of severe orbital hypertelorism were performed.[] Tissue expansion was implanted in the zygomatic and temporal region 3 weeks before traditional operation in 2 cases of severe orbital hypertelorism.[] The present report describes a case of severe orbital hypertelorism of an 11-year-old boy, where surgical correction was planned using three-dimensional printing modelling[]

  • Puerperium

    […] blepharophimosis syndrome and Marcus Gunn jaw-winking syndrome.[3] Blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is an autosomal dominant condition characterized by severe[] […] bilateral congenital ptosis associated with telecanthus, epicanthus inversus, hypoplasia of the superior orbital rims, horizontal shortening of the eyelids, ear deformities, hypertelorism[]

  • High Myopia-Sensorineural Deafness Syndrome

    While the elder sister has severe hypertelorism, high myopia, severe hearing loss, and mild developmental delay.[] Abstract We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria.[] , severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria.[]

  • Hyponatremia

    (vi) Pyridoxine-dependent seizures (vii) Hypercalcemia and hypercalciuria Childhood: mild or severe After 6 months, before 18 years of age Wide range of severities: (i) Early[] Bony abnormalities: deformity of the thorax, fractures, and craniosynostosis (iii) Poor feeding and failure to thrive (iv) Delayed motor milestones (v) Proptosis and mild hypertelorism[]

  • Heart Failure

    At 25 years of age, she developed heart failure of both sides due to PR, TR and late-onset severe mitral stenosis (MS). The etiology of MS was uncertain.[] On the basis of the history of PS and characteristic physical features including short stature, webbed neck, and hypertelorism, she was clinically diagnosed with NS.[]

  • Klinefelter Syndrome

    . - 49,XXXXY Males with 49,XXXXY are severely affected.[] […] variant of Klinefelter syndrome Abnormal facial features include hypertelorism, epicanthic folds, broad nasal bridge, low-set and malformed ears and prognathism Cardiac defects[] […] consistent with their IQ level, and they are typically described as passive, cooperative, and not particularly aggressive [ 10, 25, 26 ]. 49,XXXXY Males with 49,XXXXY are severely[]

  • Acrocallosal Syndrome

    hypertelorism and profound psychomotor delay.[] (A) Severe hypertelorism with frontal bossing. Note repaired bilateral cleft lip. (B) Left foot soon after birth.[] ACS) with extensive polysyndactyly of the hands and feet, craniofacial abnormalities including macrocephaly, agenesis of the corpus callosum, dysplastic and low-set ears, severe[]

  • Demyelinating Disease

    . - 49,XXXXY Males with 49,XXXXY are severely affected.[] Their IQs are usually between 40 and 60, with severely delayed speech.[] They manifest microcephaly with short stature, ocular hypertelorism, flat nasal bridge, and upslanting palpebral fissures.[]

  • Renal Pelvic Calculus

    A physical examination showed dysmorphic features, such as a prominent nasal bridge, hypertelorism, down-slanting palpebral fissures, a small mouth, micrognathia, low set[] […] ears, sparse hair, severe kyphoscoliosis, bilateral broad thumbs and great toes (Figure 1,2), a central cyanosis, marked right thoracic rib prominence, right shoulder elevation[]

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