OBJECTIVES: We report on a female fetus of 24 weeks gestational age with Fine-Lubinsky syndrome (FLS), representing the 7th case published so far. METHODS: Prenatal ultrasound was performed at 22+1 weeks of gestation and thorough postmortem examination was made after termination of pregnancy. RESULTS: The diagnosis of FLS in the fetus was based on characteristic features that were already apparent in early prenatal life, such as growth deficiency, brachycephaly, flat face with associated dysmorphic signs, microstomia and cataract, while deafness and mental retardation, which are syndrome-specific functional disorders and evident only postnatally, could not be taken into account. CONCLUSIONS: This case demonstrates the diagnostic problems in fetal syndromology if syndrome-specific features are not yet recognizable and additional complications occur that had not been observed in this disorder. Copyright 2008 S. Karger AG, Basel.
OBJECTIVES: We report on a female fetus of 24 weeks gestational age with Fine-Lubinsky syndrome (FLS), representing the 7th case published so far. METHODS: Prenatal ultrasound was performed at 22+1 weeks of gestation and thorough postmortem examination was made after termination of pregnancy. RESULTS: The diagnosis of FLS in the fetus was based on characteristic features that were already apparent in early prenatal life, such as growth deficiency, brachycephaly, flat face with associated dysmorphic signs, microstomia and cataract, while deafness and mental retardation, which are syndrome-specific functional disorders and evident only postnatally, could not be taken into account. CONCLUSIONS: This case demonstrates the diagnostic problems in fetal syndromology if syndrome-specific features are not yet recognizable and additional complications occur that had not been observed in this disorder. Copyright 2008 S. Karger AG, Basel.
Authors: Marcello Niceta; Emilia Stellacci; Karen W Gripp; Giuseppe Zampino; Maria Kousi; Massimiliano Anselmi; Alice Traversa; Andrea Ciolfi; Deborah Stabley; Alessandro Bruselles; Viviana Caputo; Serena Cecchetti; Sabrina Prudente; Maria T Fiorenza; Carla Boitani; Nicole Philip; Dmitriy Niyazov; Chiara Leoni; Takaya Nakane; Kim Keppler-Noreuil; Stephen R Braddock; Gabriele Gillessen-Kaesbach; Antonio Palleschi; Philippe M Campeau; Brendan H L Lee; Celio Pouponnot; Lorenzo Stella; Gianfranco Bocchinfuso; Nicholas Katsanis; Katia Sol-Church; Marco Tartaglia Journal: Am J Hum Genet Date: 2015-04-09 Impact factor: 11.025