title: Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.
abstract: Genitopatellar syndrome (GPS) is a rare disorder with characteristic craniofacial features, congenital flexion contractures of the lower limbs, absent or abnormal patellae, urogenital anomalies, and severe psychomotor retardation. Twelve patients with ages from 15 days to 12 years and two affected fetuses have been reported. We describe a 17-year-old female with a phenotype consistent with GPS. Being the oldest reported patient, she is the first one showing severe symptomatic osteoporosis and endocrine abnormalities including primary hypothyroidism and delayed puberty. We suggest that these novel findings are also manifestations of GPS.
authors.affiliation: Clinical Genetics Unit, Department of Pediatrics, Turku University Hospital, Turku, Finland. maila.penttinen@tyks.fi
authors.forename: Maila
authors.initials: M
authors.lastname: Penttinen
authors.forename: Hannele
authors.initials: H
authors.lastname: Koillinen
authors.forename: Harri
authors.initials: H
authors.lastname: Niinikoski
authors.forename: Outi
authors.initials: O
authors.lastname: Mäkitie
authors.forename: Marja
authors.initials: M
authors.lastname: Hietala
mesh_terms: D000293:Adolescent; D000013:Congenital Abnormalities / Q000235:genetics*; D004703:Endocrine System / Q000002:abnormalities*; D005260:Female; D006801:Humans; D010024:Osteoporosis / Q000235:genetics*; D012720:Severity of Illness Index; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000235:genetics*