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Oculo-Palato-Cerebral Syndrome
Oculopalatocerebral Syndrome

Presentation

Microcephaly is present in all patients (between -2 and -5.6 SD). Persistent hyperplastic primary vitreous (uni- or bilateral) was present in all cases reported so far and may be associated with microphthalmia, cataract or optic atrophy. [orpha.net]

Our patient presented most of the characteristics initially described by Say et al. (1975), though cystic renal dysplasia was not observed. [scielo.br]

Entire Body System

  • Constitutional Symptom

    symptom (HP:0025142) Abnormal cellular phenotype (HP:0025354) Abnormality of the musculoskeletal system (HP:0033127) Abnormality of the thoracic cavity (HP:0045027) Voir plus Pré-analytique : 5 ml de sang total ou ADN extrait Température ambiante Options [staging.biomnis.blueshiftagency.co.uk]

Respiratoric

  • Pleural Effusion

    Pleural effusions in the neonate. Curr Opin Pulm Med. 2007; 13(4):305-11. 3. Bellini C, Ergaz Z, Boccardo F, Bellini T, Campisi CC, Bonioli E, et al. [ijn.mums.ac.ir]

Ears

  • Hearing Impairment

    […] anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency [se-atlas.de]

Workup

Pleura

  • Pleural Effusion

    Pleural effusions in the neonate. Curr Opin Pulm Med. 2007; 13(4):305-11. 3. Bellini C, Ergaz Z, Boccardo F, Bellini T, Campisi CC, Bonioli E, et al. [ijn.mums.ac.ir]

Treatment

Management and treatment Treatment should include surgical correction of the palate anomalies and management of the visual problems. Physical and speech therapy should also be recommended. [orpha.net]

Somatostatin or octreotide as treatment options for chylothorax in young children: a systematic review. Intensive Care Med. 2006; 32(5):650-7. 24. Das A, Shah PS. Octreotide for treatment of chylothorax in newborns. [ijn.mums.ac.ir]

Prognosis

Prognosis Although no data are available on the long-term prognosis, the nature of the anomalies suggests that life expectancy for these patients is normal. The documents contained in this web site are presented for information purposes only. [orpha.net]

Etiology

[…] between two patterns of eye movement abnormality can help the physicians to narrow down the differential diagnosis and point out the possible etiology more precisely. [tremorjournal.org]

Etiology So far, neither a causative gene nor locus has been identified. [orpha.net]

Common etiologies of neonatal pleural effusion. Pediatr Neonatol. 2011; 52(5):251-5. 11. Caserio S, Gallego C, Martin P, Moral MT, Pallás CR, Galindo A. Congenita chylothorax: from foetal life to adolescence. Acta Paediatr. 2010; 99(10):1571-7. 12. [ijn.mums.ac.ir]

Epidemiology

Summary Epidemiology It has been described in five patients (three boys and two girls). Clinical description Maternal hypertension, oligoamnios and intrauterine growth retardation (IUGR) are often noted during pregnancy. [orpha.net]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Pathophysiology

Loss of GABAergic control at the level of the gap junction between neurons in the ION and loss of inhibitory signal from the cerebellar deep nuclei to contralateral ION are the possible pathophysiologic mechanism of FOPM.3,4 While the most common etiology [tremorjournal.org]

Acquired pendular nystagmus: its characteristics, localising value and pathophysiology. J Neurol Neurosurg Psychiatry 1974; 37 :570–7. 4. Gautier JC, Blackwood W. [nature.com]

Prevention

It usually occurs with myoclonus which not only restricts to the cranial region but also involves limbs and trunk that may prevent the patients from sitting and standing. [tremorjournal.org]

With treatment, doctors often can prevent loss of vision. [familydiagnosis.com]

Centers for Disease Control and Prevention Intersex [ Read More ] [icdlist.com]

The specific insults that prevent regression of the primary vitreous remain unknown. [medtextfree.wordpress.com]

Arrayit Corporation ( ARYC ) leads and empowers the genetic, research, pharmaceutical, and diagnostic communities through the discovery, development and manufacture of proprietary life science technologies and consumables for disease prevention, treatment [arrayit.com]

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