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Phocomelia Syndrome - a Case Report Gayatri S

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Phocomelia Syndrome - a Case Report Gayatri S JKIMSU, Vol. 1, No. 2, July-Dec. 2012 ISSN 2231-4261 CASE REPORT Phocomelia Syndrome - A Case Report Gayatri S. Chakre 1*, S. U. Chakre2, P. R. Kulkarni1 1Department of Anatomy, 2Department of Pediatrics, Dr. V. M. Government Medical College, Solapur- 413003 (Maharashtra), India Abstract: at Civil Hospital attached to Dr. V. M. Govt. Medical College, Solapur. After birth, baby was Phocomelia is an extremely rare malformation referred to NICU for congenital limb anomaly. in which babies are born with limbs that look The mother did not have any antenatal history like flippers on a seal. Although various fac- of drug intake or any other complications. tors can cause phocomelia, the prominent roots On examination, the neonate had underdevel- came from the drug use of thalidomide and from oped upper limbs, thumbs were missing on both genetic inheritance. Phocomelia is transmitted sides, with 4 fingers on right and 3 fingers on as an autosomal recessive trait with variable left side. On systemic examination, pansystolic expressivity and malformation is linked to murmur of grade 3 was present suggestive of chromosome 8. ventricular septal defect, which was confirmed Key Words: Phocomelia, meromelia, Thali- by 2-D-echo. On the basis of findings phoc- domide syndrome. omelia syndrome was suspected. Case report: Discussion: A full term male child born of non consanguin- Embryological basis of malformation of limbs eous marriage with birth weight of 2.6 kg was show that an individual will have chromosome delivered vaginally to 26 yrs old primi gravida copies that do not connect at centromeres Ó Journal of Krishna Institute of Medical Sciences University 150 JKIMSU, Vol. 1, No. 2, July-Dec. 2012 Gayatri S. Chakre et al making them unable to move to the equatorial and cardiac defects [4]. plane of spindle in metaphase of cell division. Typically the symptoms of phocomelia syn- As a result, the cell becomes incapable of divi- drome are undeveloped limbs, mental sion or slow in process, because of this the deciencies, and craniofacial anomalies. In se- newly made cells contain an excessive or re- vere cases encephalocele, hydrocephalus, bi- duced amount of chromatin. In phocomelia, the cornuate uterus, malformations in kidney and cells ceased to develop or die, preventing heart are found [1]. The diagnosis relies upon proper development of limbs, eyes, brain, or cytogenetic testing in peripheral blood of in- other structures [1]. Abnormalities vary greatly, dividuals with suggestive clinical findings [5]. and they may be represented by partial This was a case of phocomelia syndrome with [meromelia] or complete absence [Amelia] of a difference that no associated craniofacial one or more of the extremities. Sometimes anomalies were found. rudimentary hands are attached to the trunk by References: small, irregularly shaped bones [phocomelia, a form of meromelia or seal limbs]. Sometimes 1. Phocomelia. Available from: http:// all segments of the extremities are present but en.wikipedia.org/wiki/phocomelia. Ac- abnormally short [micromelia] [2]. Limb mal- cessed on 2010 Oct. 7. formations occur in approximately 6 per 2. Sadler TW. Text book of Langmans Medi- 10,000 live births, with 3.4 per 10,000 affect- cal Embryology. Skeletal system. 11th Ed. ing the upper limb [2]. New Delhi [South Asian edition]: Wolters Limb defects are caused by genetic factors, kluwer; 2010:140. such as chromosomal abnormalities associated 3. Moore KL, Persaud TVN, Torchia MG. with trisomy 18, mutant genes, environmental Textbook of essentials of embryology and factors, such as teratogens, a combination of birth defects. The musculoskeletal system. genetic and environmental factors [multifacto- 7th Ed. Phildelphia: John F. Kennedy; rial inheritance] vascular disruption and is- 2008: 248 chemia, as in limb reduction defects [3]. 4. Schocnwolf GC, Bleyl SB, Brauer PR, Thalidomide syndrome was caused by inges- Francis-West PH. Larsens Human Embry- tion of drug thalidomide during the sensitive ology. Development of limbs. 4thed. period of limb morphogesis. The limb malfor- Phildelphia: John F. Kennedy; 2009:619. mations are included in major defects such as 5. Robertss syndrome. Available from: http:/ amelia, phocomelia as well as minor deformi- /www.ncbi.nlm.nih.gov/books shelf/ ties such as hypoplasia of the thumb and syn- br.fcgi?book=gene & part=rbs. Accessed dactyly. Sometimes, it was accompanied by on 2010 oct 12. other defects such as anotia, duodenal stenosis *Author for Correspondence: Dr. Mrs. Gayatri S. Chakre, Department of Anatomy, Dr. V. M. Government Medical College, In front of District Court, Solapur 413003. Email : [email protected]. Ó Journal of Krishna Institute of Medical Sciences University 151.
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