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Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities
Author(s) -
Penttinen Maila,
Koillinen Hannele,
Niinikoski Harri,
Mäkitie Outi,
Hietala Marja
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32644
Subject(s) - medicine , endocrine system , craniofacial , osteoporosis , pediatrics , psychomotor learning , secondary sex characteristic , genitourinary system , psychomotor retardation , muscle contracture , endocrinology , surgery , hormone , pathology , cognition , alternative medicine , psychiatry
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. © 2009 Wiley‐Liss, Inc.