Document Detail


Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation.
MedLine Citation:
PMID:  8275567     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
L E Figuera; D García-Cruz; M L Ramírez-Dueñas; V Rivera-Robles; J M Cantù
Related Documents :
11301227 - Ifap syndrome "plus" seizures, mental retardation, and callosal hypoplasia.
7446107 - The aarskog syndrome.
2278477 - Prader-labhart-willi syndrome.
15523607 - Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome ii (trps ii, l...
21368737 - Reel syndrome - the ratchet mechanism.
23163877 - Detection of cerebral hyperperfusion syndrome after carotid endarterectomy with ct perf...
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    
Affiliation:
División de Genética, IMSS, Gaudalajara, Jalisco, Mexico.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Blepharophimosis*
Child
Female
Growth Disorders*
Humans
Infant
Microcephaly*
Psychomotor Disorders*
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Frontonasal dysplasia, lipoma of the corpus callosum and tetralogy of Fallot.
Next Document:  DNA polymorphisms of the apolipoprotein B gene are associated with obesity and serum lipids in healt...