2010, Number 6
<< Back Next >>
Rev Med Inst Mex Seguro Soc 2010; 48 (6)
Holt-Oram syndrome associated with facial anomalies. A case report
Aviña-Fierro JA, Colonnelli-Barba G
Language: Spanish
References: 8
Page: 657-659
PDF size: 38.02 Kb.
ABSTRACT
Cardiomyelic syndromes have skeletal malformations
of the upper limb and congenital heart disease,
and are related to mutations in transcription factors
with T-Box domains. Holt-Oram syndrome is characterized
by upper-extremity malformations involving
the radial, thenar, or carpal bones and congenital
heart defects. It is inherited in an autosomal dominant
manner, a mutation in TBX5 gene located on
chromosome 12 (12q24.1) is associated with variable
phenotypes. This is an unusual case of a patient
with Holt-Oram syndrome associated with facial
anomalies: hemifacial microsomia on the right side,
forehead prominent and tall, hypertelorism, depressed
nasal bridge, low set ears and micrognathia.
The presentation broadens the clinical spectrum with
delineation of facial dysmorphic features.
REFERENCES
Calderón J. Genetic and congenital heart defects. Arch Cardiol Mex 2007;77(Supl 4):58-62. Disponible en http://www.medigraphic.com/pdfs/archi/ ac-2007/acs074k.pdf
Shastri N. Picture of the month. Holt-Oram syndrome. Arch Pediatr Adolesc Med 2007;161(7): 711. Disponible en http://archpedi.ama-assn.org/ cgi/reprint/161/7/711
McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, et al. TBX5 genetic testing validates strict clinical criteria for Holt- Oram syndrome. Pediatr Res 2005;58(5):981- 986.
Holt M, Oram S. Familial heart disease with skeletal malformations. Br Heart J 1960;22:236. Disponible en http://www.ncbi.nlm.nih.gov/pmc/ articles/PMC1017650/pdf/brheartj00367-0084. pdf
Huang T. Current advances in Holt-Oram syndrome. Curr Opin Pediatr 2002;14(6):691-695.
Kantaputra PN, Yamasaki K, Ishida T, Kishino T, Niikawa N. A dominantly inherited malformation syndrome with short stature, upper limb anomaly, minor craniofacial anomalies, and absence of TBX5 mutations: report of a Thai family. Am J Med Genet 2002;111(3):301-306.
Allanson JE, Newbury-Ecob RA. Holt-Oram syndrome: is there a “face”? Am J Med Genet A 2003; 118A(4):314-318.
Lichiardopol C, Militaru C, Popescu B, Hila G, Mixich F. Holt-Oram syndrome. Rom J Morphol Embryol 2007;48(1):67-70. Disponible en http://www.rjme. ro/RJME/resources/files/4801070 67070.pdf