title: Intrafamilial variability in Fraser syndrome.
abstract: Fraser syndrome (OMIM 219000) is a rare, autosomal recessive disorder characterized by cryptophthalmos, cutanaeous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. There is marked interfamilial clinical heterogeneity. However, there is strong phenotypic similarity and concordance of the degree of severity of the disease within a family. We report a family with two cases of Fraser syndrome with marked clinical heterogeneity. One case had lethal phenotype with bilateral renal agenesis, while the other had mild phenotype with normal kidneys. It has not been reported before and highlights the importance of careful screening of pregnancies in families with Fraser syndrome.
authors.affiliation: Sanjay Gandhi Postgraduate Institute of Medical Sciences, Medical Genetics, India. drpankajprasoon@yahoo.co.in
authors.forename: Pankaj
authors.initials: P
authors.lastname: Prasun
authors.forename: Mandakini
authors.initials: M
authors.lastname: Pradhan
authors.forename: Himanshu
authors.initials: H
authors.lastname: Goel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D005143:Eyelids / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D010641:Phenotype; D011247:Pregnancy; D013576:Syndactyly / Q000235:genetics / Q000473:pathology*; D013577:Syndrome; D016216:Ultrasonography, Prenatal