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Spotter 1


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Spotter 1

  1. 1.  A 10 days old female baby brought by parents with c/o- abnormality of right upper limb since birth.
  2. 2.  BIRTH HISTORY:  Antenatal :booked case;Inj.T.T;iron and folic acid multivitamin supplementation taken.  No h/o diabetes,hypertension,thyroid disorders,fever with rash.  No h/o any drug intake.  Natal :term gestation,born though spontaneous vaginal delivery,cried immediately after birth,birth weight-2.5 kg.  First born female child of non consanguionous marriage
  3. 3.  General examination:Baby warm,pink.  Cry,tone-normal.  No pallor,icterus,cyanosis,clubbing.  Heart rate-122/min;R.R-42/min;CFT<3sec.  SYSTEMIC EXAMINATION:  Respiratory:normal vesicular breath sounds.  CVS-s1s2 heard,no murmurs.  P/A-soft.  LOCAL EXAMINATION:right upper limb—flexed at elbow and wrist.  Forearm pronated.ABSENT THUMB.
  4. 4.  INVESTIGATIONS-  CBP-Hb-14.2gm%,TWBC-7400cells/cc(N-62%,L- 34%,E-1,M-2,B-0);Platelets-2.2lakh/c  USG ABDOMEN-normal study.  2D Echo-osteum secundum type ASD.  X-RAY RIGHT UPPER LIMB-ABSENT RADIUS. .
  5. 5. X ray right upper limb
  6. 6. HOLT ORAM SYNDROME  Also called---Cardiac limb syndrome,cardiomelic syndrome,atriodigital dysplasia,heart-upper limb syndrome.  Genetically determined disorder in which aplasia or hypoplasia of digital rays and/or radius associated with congenital heart disease.  Holt and Oram first descibed this in 4 generation family with atrial septal defects and thumb abnormalities.
  7. 7.  CAUSES—Autosomal dominant and highly penetrant.  Initial linkage studies demonstrate gene defect on the long arm of chromosome 12.  Molecular genetics revealed mutations that inactivate the transcription factor TBX5,which is important in the development of both upper limb and heart.  Sporadic disease represent a de novo germline mutation in TBX5.
  8. 8. EPIDEMIOLOGY  Frequency—0.95 cases per 1lakh total births.85% are due to new mutations.  Sex—no sexual predilection.  Age– present at birth.  Subtle limb involvement may not become clinically apparent until later in life when cardiac symptoms of disease manifest or when an individual has a child with more severe presentation of the syndrome.  Cardiac conduction disease is progressive with aging.  Middle aged individuals often present with AV block or AF.
  9. 9. CARDIAC MANIFESTATIONS  ASD(ostium secundum and primum)  VSD.  CONDUCTION DEFECTS.  MS,MVP,PDA,TOF,PS, TGA.  Coarctation of aorta,aortic arch malformations  Replaced subclavian artery.  Persistent left superior venacava.  Hypoplastic left heart.
  10. 10. SKELETAL DEFORMITIES  Unilateral or bilateral and asymmetrical.  Absent thumb,triphalengeal thumb.  Pouse flotant(thumb connected by skin tag).  clinodactily.,syndactily.  CARPAL BONE ANOMALIES.  Radial ray aplasia.  Aplasia of first metacarpals.  Phocomelia.  Shoulder defects.
  11. 11.  HOLT ORAM SYNDROME IS EXCLUDED IF ANY FOLLOWING ANOMALIES PRESENT---  Ulnar bone  Lower limbs  Kidneys,eyes  auditory,  Craniofacial  Vertebral(may or my not occur in HOLT ORAM)
  12. 12.  PROGNOSIS—depends on severity of cardiac lesions.  Significant intracardiac shunts associated with sudden death, pulmonary hypertension , Eisenmenger syndrome.  The first clinical manifestation may be heart failure,cardiac arrhyhmias(including heart block)or infective endocarditis.
  13. 13. Differential diagnosis:  VACTERL  TRISOMY 18 ( EDWARD)  THALIDOMIDE EMBRYOPATHY  Fanconi ‘s anemia  TAR syndrome