Central nervous system anomalies in Seckel syndrome: Report of a new family and review of the literature

American Journal of Medical Genetics

Volumn 70, Issue 2, 1997, Pages 155-158

  Shanske, Alan ^a,b   Caride, Diana G ^a   Menasse Palmer, Lisa ^a   Bogdanow, Anna ^a   Marion, Robert W ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b MONTEFIORE MEDICAL CENTER   (United States)

Author keywords

agenesis of the corpus callosum; autosomal recessive inheritance; dwarfism; microcephalic; neuronal migration disorder; pachygyria; primordial; Seckel syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN CORTEX; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; CORPUS CALLOSUM AGENESIS; DWARFISM; FEMALE; HUMAN; INFANT; MALE; MICROCEPHALY; PACHYGYRIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SECKEL SYNDROME;

BRAIN; CHILD, PRESCHOOL; CONSANGUINITY; CRANIOFACIAL ABNORMALITIES; DWARFISM; FACIES; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PEDIGREE;

EID: 0030941125     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970516)70:2<155::AID-AJMG10>3.0.CO;2-I     Document Type: Article

References (10)

1. Aarons PH (1964): Vogelkopdwergen. Maandschr Kindergeneesk 32:384-394.
2. Black J (1961): Low birth weight dwarfism. Arch Dis Child 36:633-644.
3. Cervenka J, Tsuchiya H, Ishika T, Suzuki M, Mori H (1979): Seckel's dwarfism: Analysis of chromosome breakage and sister chromatid exchanges. Am J Dis Child 133:555-556.
4. Gorlin EJ, Cohen MM Jr, Levin LS (1990): "Syndromes of the Head and Neck, third edition." New York: Oxford University Press, pp 313-316.
5. Harper RG, Orti E, Baker RK: Bird headed dwarfs (Seckel's syndrome). J Pediatr 70:799-804.
6. Krishna AG, Scrimgeour EM, Zawawi TH (1994): Seckel syndrome in a Yemeni family in Saudi Arabia. Am J Med Genet 51:224-227.
7. Majewski F, Goecke T (1982): Studies of microcephalic primordial dwarfism I: Approach to a delineation of the Seckel syndrome. Am J Med Genet 12:7-21.
8. Sauk JJ, Litt R, Espiritu CE, Delaney IR (1973): Familial bird-headed dwarfism (Seckel's syndrome). J Med Genet 10:196-198.
9. Seckel HPG (1960): "Bird-Headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions." Springfield, IL: Charles C. Thomas.
10. Sugio Y, Tsukahara M, Kajii T (1993): Two Japanese cases with microcephalic primordial dwarfism: Classical Seckel syndrome and osteodysplastic primordial dwarfism type II. Japan J Human Genet 38:209-217.