Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 451-455

  Penttinen, Maila ^a   Koillinen, Hannele ^a   Niinikoski, Harri ^a   Mäkitie, Outi ^b   Hietala, Marja ^c  

^a TURKU UNIVERSITY HOSPITAL   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c UNIVERSITY OF TURKU   (Finland)

Author keywords

Delayed puberty; Genitopatellar syndrome; Hypothyroidism; Osteoporosis

Indexed keywords

CALCIUM; ESTRADIOL; ESTROGEN; LEVOTHYROXINE; PAMIDRONIC ACID; VITAMIN D;

ADOLESCENT; ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL MALFORMATION; DELAYED PUBERTY; DISEASE SEVERITY; DRUG DOSE INCREASE; ELECTROMYOGRAPHY; ENDOCRINE DISEASE; FEMALE; FLEXION CONTRACTURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENITOPATELLAR SYNDROME; GLUCOSURIA; HUMAN; HYPOTHYROIDISM; KARYOTYPE; LEG MALFORMATION; MALFORMATION SYNDROME; NERVE CONDUCTION; OSTEOPOROSIS; PHENOTYPE; PREGNANCY COMPLICATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SKELETON MALFORMATION; UROGENITAL TRACT MALFORMATION; UTERUS CONTRACTION; VAGINA BLEEDING; VITAMIN SUPPLEMENTATION;

ADOLESCENT; CONGENITAL ABNORMALITIES; ENDOCRINE SYSTEM; FEMALE; HUMANS; OSTEOPOROSIS; SEVERITY OF ILLNESS INDEX; SYNDROME; UROGENITAL ABNORMALITIES;

EID: 61749098197     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32644     Document Type: Article

References (17)

1. Abdul-Rahman OA, La TH, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. 2006. Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4. Am J Med Genet Part A 140A:1567-1572.
2. Armstrong L, Clarke JT. 2002. Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature. J Med Genet 39:933-934.
3. Bongers EM, van Kampen A, van Bokhoven H, Knoers NV. 2005. Human syndromes with congenital patellar anomalies and the underlying gene defects. Clin Genet 68:302-319.
4. Center J, Beange H, McElduff A. 1998. People with mental retardation have an increased prevalence of osteoporosis: a population study. Am J Ment Retard 103:19-28.
5. Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M. 2000. Genitopatellar syndrome: A new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J Med Genet 37:520-524.
6. Goldblatt J, Wallis C, Zieff S. 1988. A syndrome of hypoplastic patellae, mental retardation, skeletal and genitourinary anomalies with normal chromosomes. Dysmorphol Clin Genet 2:91-93.
7. Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, Bonafé L. 2004. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet Part A 131A:115-120.
8. Lammer EJ, Abrams L. 2002. Genitopatellar syndrome: Delineating the anomalies of female genitalia. Am J Med Genet 111:316-318.
9. Lifchez CA, Rhead WJ, Leuthner SR, Lubinsky MS. 2003. Genitopatellar syndrome: Expanding phenotype. Am J Med Genet Part A 122A:80-83.
10. Lingam S, Joester J. 1994. Spontaneous fractures in children and adolescents with cerebral palsy. BMJ 309:265.
11. Reardon W. 2002. Genitopatellar syndrome: A recognizable phenotype. Am J Med Genet 111:313-315.
12. Say B, Barber N, Miller GC, Grogg SE. 1986. Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers. J Med Genet 23:355-359.
13. Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B. 2007. Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome. Am J Med Genet Part A 143A:1071-1081.
14. Scholte FA, Begeer JH, van Essen AJ. 1991. Unknown syndrome: Mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism. J Med Genet 28:140-142.
15. Sheth RD. 2004. Bone health in pediatric epilepsy. Epilepsy Behav 5:S30-S35.
16. Shotelersuk V, Desudchit T, Suwanwela N. 2003. Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. Am J Med Genet Part A 116A:164-169.
17. Sochett EB, Makitie O. 2005. Osteoporosis in chronically ill children. Ann Med 37:286-294.