Document Detail

Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation.
MedLine Citation:
PMID:  8275567     Owner:  NLM     Status:  MEDLINE    
Two unrelated Mexican girls, aged 14 months and 6 years respectively, with Kaufman oculocerebrofacial syndrome, are reported. Both showed psychomotor retardation, microcephaly, blepharophimosis and delayed growth as the main features; the infant also presented preauricular tags and large clitoris. Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia and the neonatal respiratory distress are the most typical characteristics of this mental retardation syndrome.
L E Figuera; D García-Cruz; M L Ramírez-Dueñas; V Rivera-Robles; J M Cantù
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  44     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1993 Aug 
Date Detail:
Created Date:  1994-02-07     Completed Date:  1994-02-07     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  98-101     Citation Subset:  IM    
División de Genética, IMSS, Gaudalajara, Jalisco, Mexico.
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MeSH Terms
Abnormalities, Multiple*
Growth Disorders*
Psychomotor Disorders*

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