Ambras syndrome: report on two affected siblings with no prior family history.
We report two siblings with congenital generalized hypertrichosis and distinctive facial appearance consistent with the dysmorphic facial features described in Ambras syndrome. The patients were born to non-consanguineous, phenotypically normal parents. This is the first report of affected siblings and could be explained by either autosomal recessive inheritance or by germline mosaicism for an autosomal dominant gene. We compared the phenotype of our patients to descriptions of reported cases and discuss phenotypic variability.
Belengeanu
Valerica
V
Department of Medical Genetics, University of Medicine and Pharmacy, Timişoara, Romania Department of Pediatrics, County Hospital, Timişoara, Romania Department of Cell and Molecular Biology, University of Medicine and Pharmacy, Timişoara, Romania.
Rozsnyai
Kinga
K
Gug
Cristina
C
Bănăţeanu
Mariana
M
Farcaş
Simona
S
Belengeanu
Alina
A
D002675:Child, Preschool; D019066:Facies; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics / Q000503:physiopathology*; D007223:Infant