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Joubert syndrome in Chinese infants and children: a report of four cases.
Zhonghua Yi Xue Za Zhi (Taipei). 1993 Nov; 52(5):342-5.ZY

Abstract

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.

Authors+Show Affiliations

Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, R.O.C.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8299032

Citation

Shian, W J., et al. "Joubert Syndrome in Chinese Infants and Children: a Report of Four Cases." Zhonghua Yi Xue Za Zhi = Chinese Medical Journal; Free China Ed, vol. 52, no. 5, 1993, pp. 342-5.
Shian WJ, Chi CS, Mak SC, et al. Joubert syndrome in Chinese infants and children: a report of four cases. Zhonghua Yi Xue Za Zhi (Taipei). 1993;52(5):342-5.
Shian, W. J., Chi, C. S., Mak, S. C., & Chen, C. H. (1993). Joubert syndrome in Chinese infants and children: a report of four cases. Zhonghua Yi Xue Za Zhi = Chinese Medical Journal; Free China Ed, 52(5), 342-5.
Shian WJ, et al. Joubert Syndrome in Chinese Infants and Children: a Report of Four Cases. Zhonghua Yi Xue Za Zhi (Taipei). 1993;52(5):342-5. PubMed PMID: 8299032.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Joubert syndrome in Chinese infants and children: a report of four cases. AU - Shian,W J, AU - Chi,C S, AU - Mak,S C, AU - Chen,C H, PY - 1993/11/1/pubmed PY - 1993/11/1/medline PY - 1993/11/1/entrez SP - 342 EP - 5 JF - Zhonghua yi xue za zhi = Chinese medical journal; Free China ed JO - Zhonghua Yi Xue Za Zhi (Taipei) VL - 52 IS - 5 N2 - 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. SN - 0578-1337 UR - https://www.unboundmedicine.com/medline/citation/8299032/Joubert_syndrome_in_Chinese_infants_and_children:_a_report_of_four_cases_ L2 - http://www.diseaseinfosearch.org/result/3917 DB - PRIME DP - Unbound Medicine ER -