title: Congenital cataracts, facial dysmorphism, and neuropathy syndrome.
abstract: Congenital cataracts, facial dysmorphism, and neuropathy syndrome is a delineated genetic disease exclusively manifested in the Roma population. The pattern of inheritance is autosomal recessive, and a causative mutation is evident in the CTDP1 gene. Affected patients display congenital cataracts, microcornea, peripheral neuropathy, mild facial dysmorphism, hypogonadism, and psychomotor delay. We present the second case of this syndrome in a Greek Roma family, diagnosed in early infancy, along with the prenatal diagnosis in a subsequent pregnancy.
authors.affiliation: First Department of Pediatrics, National Kapodistrian University of Athens, Children's Hospital Aghia Sophia, Athens, Greece. fltzifi@med.uoa.gr
authors.forename: Flora
authors.initials: F
authors.lastname: Tzifi
authors.forename: Roser
authors.initials: R
authors.lastname: Pons
authors.forename: Corina
authors.initials: C
authors.lastname: Athanassaki
authors.forename: Myrto
authors.initials: M
authors.lastname: Poulou
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
mesh_terms: D000328:Adult; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000151:congenital* / Q000235:genetics*; D010749:Phosphoprotein Phosphatases / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D006178:Romani People; D013577:Syndrome
chemical_list: D010749:Phosphoprotein Phosphatases; C116022:carboxy-terminal domain phosphatase