Document Detail


Finlay-Marks syndrome: Report of two siblings and review of literature.
MedLine Citation:
PMID:  22639454     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Finlay-Marks syndrome (scalp-ear-nipple syndrome), is the infrequently reported association of scalp aplasia, malformed ears, and breast abnormalities varying from small nipples to complete absence of breasts. Other manifestations are variable and some of them resemble ectodermal dysplasia and include dystrophy of nails and teeth, sparse hair, decreased sweating, and cutaneous syndactyly of digits. Renal anomalies have been reported in some patients leading to hypertension and renal insufficiency. Most reported patients have been sporadic but familial occurrences following an autosomal dominant pattern of inheritance have been reported. We report on two affected siblings, of whom one died in the neonatal period due to renal failure. Two affected siblings born to non-affected parents may suggest an autosomal recessive inheritance. © 2012 Wiley Periodicals, Inc.
Authors:
Prashant Naik; Pushpa Kini; Deepti Chopra; Yogesh Gupta
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-5-25
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  -     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-5-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Affiliation:
Department of Paediatrics, Kasturba Medical College, Manipal, Karnataka, India. drnaikprashant@yahoo.com, prashantn9@gmail.com.
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