Joubert syndrome associated with patent ductus arteriosus in a newborn infant

Genetic Counseling

Volumn 20, Issue 3, 2009, Pages 289-292

  Peker, Erdal ^a   Kirimi, E ^a   Sal, E ^a   Ceylan, A ^a   Ustyol, L ^a   Caksen, H ^a  

^a YUZUNCU YIL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; FEMALE; HUMAN; JOUBERT SYNDROME; LETTER; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT DUCTUS ARTERIOSUS; TRICUSPID VALVE REGURGITATION;

ABNORMALITIES, MULTIPLE; BRAIN STEM; CEREBELLUM; CHROMOSOME ABERRATIONS; CRANIOFACIAL ABNORMALITIES; DUCTUS ARTERIOSUS, PATENT; ECHOENCEPHALOGRAPHY; FEMALE; FOLLOW-UP STUDIES; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; PHENOTYPE; SYNDROME; TRICUSPID VALVE INSUFFICIENCY;

EID: 70350139726     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (6)

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2. ELMALI M., OZMEN Z., CEYHUN M., TOKATLIOǦLU O., INCESU L., DIREN B.: Joubert syndrome with atrial septal defect and persistent left superior vena cava. Diagn. Interv. Radiol., 2007, 73, 94-96.
3. JOUBERT M., EISENRING J.J., ANDERMANN F.: Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology, 1968, 18, 302-303.
4. JOUBERT M., EISENRING J.J., ROBB J.P., ANDERMANN F.: Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology, 1969, 19, 813-825.
5. MARIA B.L., BOLTSHAUSER E., PALMER S.C., TRAN T.X.: Clinical features and revised diagnostic criteria in Joubert syndrome. J. Child. Neurol., 1999, 14, 583-590.
6. MERRITT L.: Recognition of the clinical signs and symptoms of Joubert syndrome. Adv. Neonatal. Care, 2003, 3, 178-188. 289