Document Detail

Aarskog syndrome: report of a family with review and discussion of nosology.
MedLine Citation:
PMID:  8322809     Owner:  NLM     Status:  MEDLINE    
Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. Collectively, the affected relatives have the full spectrum of findings seen in AS. Based on analysis of this family and others from the literature, we derive primary and secondary diagnostic criteria for AS. Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary criteria include: abnormal auricles with fleshy lobules, posteriorly angulated ears, widow's peak, ptosis, downward slant of palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism, inguinal hernia, and prominent umbilicus. Literature pertaining to the clinical manifestations and genetics of AS is reviewed and nosology of similar syndromes is discussed.
A S Teebi; J K Rucquoi; M S Meyn
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  46     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Jun 
Date Detail:
Created Date:  1993-07-30     Completed Date:  1993-07-30     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  501-9     Citation Subset:  IM    
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
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MeSH Terms
Abnormalities, Multiple / classification,  diagnosis,  genetics*
Child, Preschool
Diseases in Twins / genetics
Face / abnormalities*
Genitalia, Male / abnormalities*
Hand Deformities, Congenital / genetics
Hypertelorism / genetics

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