Τίτλος:
Congenital cataracts, facial dysmorphism, and neuropathy syndrome
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2011 Elsevier Inc. All rights reserved.
Συγγραφείς:
Tzifi, F.
Pons, R.
Athanassaki, C.
Poulou, M.
Kanavakis, E.
Περιοδικό:
Pediatric Neurology
Λέξεις-κλειδιά:
article; brain radiography; case report; clinical examination; computer assisted tomography; congenital cataract; face dysmorphia; Greece; head circumference; human; infant; male; muscle strength; nuclear magnetic resonance imaging; peripheral neuropathy; physical examination; pregnancy; prenatal diagnosis; priority journal; sequence analysis; subarachnoid space; Sylvian fissure, Adult; Cataract; Face; Female; Gypsies; Humans; Infant, Newborn; Male; Mutation; Peripheral Nervous System Diseases; Phosphoprotein Phosphatases; Pregnancy; Prenatal Diagnosis; Syndrome
DOI:
10.1016/j.pediatrneurol.2011.05.008
