Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0231835 (tachypnea)
 2,543 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four Chinese infants and children (3 females & 1 male), aged from five months to three years, are diagnosed with Joubert syndrome by clinical and radiological findings. The clinical presentations included panting respiration with apnea in the newborn period (4/4), psychomotor retardation (4/4) and ataxia (2/4). The ocular findings were strabismus (3/4), unilateral ptosis (2/4), jerky eye movement (1/4) and retinal atrophy (1/4). Associated cerebral anomalies were occipital encephalocele (1/4) and hypoplasia of corpus callosum (1/4). All four underwent electroencephalography, abdominal ultrasonography, auditory and visual evoked potential tests; results were all normal. Two patients underwent electroretinogram with normal findings. The brain magnetic resonance imagings of all four patients showed dysgenesis of cerebellar vermis. For children presenting with ataxia and psychomotor retardation, Joubert syndrome is a more obvious diagnostic choice, but it is also important to keep this unusual disorder in mind as a differential diagnosis of neonatal tachypnea with apnea.
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PMID:Joubert syndrome in Chinese infants and children: a report of four cases. 829 32

Joubert syndrome is an autosomal recessive disorder that is characterized by a variable combination of central nervous system, respiratory and eye anomalies. It is a syndrome with a variable phenotype: partial or complete absence of the cerebellar vermis is seen in all patients, while other cardinal findings include episodic tachypnea and apnea in the neonatal period, jerky eye movements, hypotonia, severe mental handicap, developmental delay, ataxia and impaired equilibrium. Even within sibships the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of Joubert syndrome. A case of Joubert syndrome in a newborn is reported and the importance of recognizing the syndrome in the neonatal period so that specific and effective supportive measures can be started as soon as possible is stressed.
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PMID:Joubert syndrome: Report of a neonatal case. 2001 35