Holt-Oram syndrome: a rare case report


  • Parul Sinha Department of Obstetrics and Gynecology, IMS, BHU, Varanasi, U.P.
  • Madhu Jain Department of Obstetrics and Gynecology, IMS, BHU, Varanasi, U.P.
  • Shuchi Jain Department of Obstetrics and Gynecology, IMS, BHU, Varanasi, U.P.


Holt-Oram syndrome, Upper limb malformations, Heart and hand syndrome


Holt-Oram syndrome is an inherited disorder that causes abnormalities of the hands, arms and heart. The diagnosis can be established clinically. The diagnostic criteria have been validated with molecular testing. An upper-limb malformation involving the carpal bone(s) and, variably, the radial and/or thenar bones-An abnormal carpal bone, present in all affected individuals and identified by performing a posterior-anterior hand x-ray, may be the only evidence of disease. 24 years unbooked Hindu female G2P1+0 presented in OPD at term. Her USG examination showed-small deformed upper limbs with poorly appreciable upper limb skeleton. Induction of labour was done and patient delivered vaginally a female baby with deformed upper limbs. This case emphasizes the importance of proper history taking (family history), early diagnosis of such anomalies and proper counseling the parents.


Levi S. Mass screening for fetal abnormalities: the Eurofetus study. Ultrasound Obstet Gynecol. 2003;22:555-8.

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;58:981-6.

Poznanski AK, Gall JC Jr, Stern AM. Skeletal manifestations of the Holt-Oram syndrome. Radiology. 1970;94:45-53.

Tongsong T, Chanprapaph P. Prenatal sonographic diagnosis of Holt-Oram syndrome. J Clin Ultrasound. 2000;28:98-100.




How to Cite

Sinha, P., Jain, M., & Jain, S. (2017). Holt-Oram syndrome: a rare case report. International Journal of Research in Medical Sciences, 3(1), 312–313. Retrieved from https://www.msjonline.org/index.php/ijrms/article/view/1260



Case Reports