Cerebellar hypoplasia - Endosteal sclerosis: A long term follow-up

American Journal of Medical Genetics

Volumn 134 A, Issue 2, 2005, Pages 215-219

  Ozgen, Heval M ^a   Overweg Plandsoen, Wouterina C G ^b   Blees Pelk, Janneke ^c   Besselaar, Philip P ^a   Hennekam, Raoul C M ^a,d  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Rehabilitation Centre De Trappenberg   (Netherlands)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Ataxia; Cerebellar hypoplasia; Endosteal sclerosis; Mental retardation; Osteosclerosis

Indexed keywords

ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BRAIN MALFORMATION; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ACTIVITY; DISEASE SEVERITY; ENDOSTEAL SCLEROSIS; FEMALE; FOLLOW UP; GROWTH RETARDATION; HIP DISLOCATION; HUMAN; HUMAN CELL; INHERITANCE; LONG TERM CARE; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SHORT SURVEY; TOOTH DISEASE;

ABNORMALITIES, MULTIPLE; CEREBELLAR ATAXIA; CEREBELLAR DISEASES; CEREBELLUM; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; FOLLOW-UP STUDIES; GROWTH DISORDERS; HIP DISLOCATION; HUMANS; INFANT; INFANT, NEWBORN; MICROCEPHALY; MUSCLE HYPOTONIA; OSTEOSCLEROSIS;

ATAXIA;

EID: 15944406391     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30589     Document Type: Short Survey

References (6)

1. Boltshauser E. 2004. Cerebellum-small brain but large confusion: A review of selected cerebellar malformations and disruptions. Am J Med Genet 126A:376-385.
2. Charrow J, Poznanski AK, Unger FM, Robinow M. 1991. Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome. Am J Med Genet 41:464-468.
3. Gorlin RJ, Cohen MM, Hennekam RCM. 2001. Syndromes of the head and neck, 4th edn. New York: Oxford University Press, pp 281-304.
4. Hall CM. 2002. International nosology and classification of constitutional disorders of bone. Am J Med Genet 113:65-77.
5. Steinlin M, Zangger B, Boltshauser E. 1998. Non-progressive congenital ataxia with or without cerebellar hypoplasia: A review of 34 subjects. Develop Med Child Neurol 40:148-154.
6. Stoll C, Talon P, Alembik Y, Levy JM. 1986. Hypoplasie cerebelleuse congenitale avec lesions osseuses. Ann Pediatr (Paris) 33:417-421.