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Year : 2004  |  Volume : 14  |  Issue : 2  |  Page : 165-167
Antenatal sonographic diagnosis of Patau syndrome (trisomy 13) : A case report


Department of Radiodiagnosis, IGMC and Mayo Hospital Nagpur Amarjyoti X-ray and Sonography Clinic, Wardha Road, Dhantoli Nagpur-440012, India

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Keywords: Patau Syndrome, antenatal ultrasound

How to cite this article:
Phatak S V, Tule V, Phatak M S, Kolwadkar P K. Antenatal sonographic diagnosis of Patau syndrome (trisomy 13) : A case report. Indian J Radiol Imaging 2004;14:165-7

How to cite this URL:
Phatak S V, Tule V, Phatak M S, Kolwadkar P K. Antenatal sonographic diagnosis of Patau syndrome (trisomy 13) : A case report. Indian J Radiol Imaging [serial online] 2004 [cited 2019 Oct 21];14:165-7. Available from: http://www.ijri.org/text.asp?2004/14/2/165/28577

   Introduction Top


Incidence of  Patau syndrome More Details (Trisomy 13) is 1/5000 births and it is the most severe of the three autosomal trisomies that can lead to live born infants. [1] This syndrome is characterized by multiple congenital anomalies involving virtually every organ system [2]. Neonates with trisomy 13 die usually within the first few hours or days of life. Eighty percent of the affected babies die within first month of life. [3] The rare survivors have profound mental retardation and seizures [1] Those with trisomy 13 mosaicism may have a less severe clinical picture and survival is usually longer [2].


   Case Report Top


A twenty six year old Second gravida presented for Sonography, as uterine fundal height was more than expected period of gestation. History of anomalous child in last pregnancy with short limbs was given, who died within few hours. During Sonography polyhydramnios was noted. Limbs were short particularly proximal parts of limbs, with evidence of polydactyly and bilateral clubfeet. Fibula was absent in one leg. Bilateral enlarged echogenic kidneys were seen in abdomen. Placenta was thick. Umbilical cord showed three vessels. Four-chamber view of heart was normal. No echogenic foci were seen in heart. Cleft lip was present which was not diagnosed in sonographic examination. Previous history of anomalous child, polyhydramnios, Echogenic enlarged kidneys, bilateral clubfeet and skeletal anomalies indicated possibility of chromosomal abnormality. Patient opted for termination of pregnancy. Karyotype study confirmed Patau syndrome.


   Discussion Top


Congenital anomalies include abnormalities of face, brain, extremities and heart. In particular alobar holoprosencephaly is a common finding that is invariably present with severe midline facial cleft, hypotelorism, cyclopia, microphthalmia and absence of nose. Other intracranial anomalies that can be seen with trisomy 13 include microcephaly, abnormal posterior fossa, agenesis of corpus callosum and ventriculomegaly. More than 90% of fetuses with this trisomy have cardiac defects Abnormalities of extremities include polydactyly and radial dysplasia. Other major defects include neural tube defects and anterior abdominal wall defects[1].

Approximately 40% of fetuses with trisomy 13 have echogenic intracardiac foci. [4] 30% of the affected fetuses have enlarged echogenic kidneys similar t o polycystic kidneys [5] Placental abnormalities such as a partial mole also have been described with trisomy 13 [1] Extremity

malformations are commonly found in a wide range of Chromosome defects. The detection of abnormal hands and feet should stimulate a search for other markers of chromosome abnormalities. Clubfoot has been associated with multiple chromosomal abnormalities including trisomy 18 and 13 [6],[7] Identification of clubfoot is an indication for chromosomal analysis when additional malformations are detected. Because associated malformations may be subtle or undetected. Chromosome analysis should be considered when club foot is seen as an apparently isolated finding polydactyly is found in approximately 80% fetuses with Trisomy 13[1] clubfoot a relatively frequent congenital malformation may be associated with several genetic syndromes, other malformations or may appear as an isolated idiopathic anomaly. The pathoanatomy of congenital clubfoot has been described in several studies. Some changes are primary while others are secondary. Atrophy of leg is the typical sign of this malformation resulting from a decrease in the size of individual muscle fibre; tendon sheaths are thickened around tibialis posterior and peroneal tendons. Joint capsules are contracted posteriorly at the ankle and subtalar joints. The talonavicular and calcaneocuboid joints are involved as well. The ligaments are also contracted including calcaneofibular, talofibular, deltoid, long and short planter, spring and bifurcate ligaments. Contractures of fascial planes and planter fascia may occur. Sometimes the entire lower limb is shorter on the affected side involving the femur, tibia and most commonly fibula. The lateral malleolus is located posteriorly and the talus is consistently deformed presenting anterior extrusion and external rotation in the mortise of ankle with medial and planter deviation. Pathogenesis of clubfoot has number of possible explanations including the theory of arrest of fetal development in the fibular phase, innervation changes in muscles seen on histochemical studies, excessive amount of fibrous tissue causing retracting fibrosis, contractures of myofibroblast like cells may have been enhanced by histamine release from mast cells and anomalous tendinous insertions[8].

The main differential diagnosis of Trisomy 13 is Meckel grubber syndrome because of the similarity of the findings polydactyly, neural tube defects (posterior encephalocele) and enlarged echogenic kidneys[1].

 
   References Top

1.Beryl R Benaceraf Ultrasound evaluation of Chromosomal abnormalities In Peter W. Callen Ultrasonography in obstetrics and gynecoloigy 4th edit ion WB Saunders 2000-53-55.  Back to cited text no. 1    
2.Beryl R. Benaceraf Ultrasound of fetal syndrome Churchill Livingstone 1998:316-321.  Back to cited text no. 2    
3.Jauniaux E, Halder A Partington C: Survival in Trisomy 13: life tables for use in genetic counseling and clinical paediatrics Clin Genetics 1985;27:59.  Back to cited text no. 3    
4.Lehman CD, Nyberg DA, Winter TC III et al. Trisomy 13 Syndrome: Prenatal US findings in review of 33 cases Radiology 1995;194:217.  Back to cited text no. 4    
5.Jone KL: Smiths recognizable patterns of human malformation Philadelphia: WB Saunders 1997,p30.  Back to cited text no. 5    
6.Jo Ann M. Johnson, David A Nyberg Chromosome abnormalities In Carol M Rumack, Stephanic R Wilson, William Charboneau Diagnostic ultrasound Vo.l 2, second edition Mosby 1998;1179.  Back to cited text no. 6    
7.Bery R. Benaceraf, Wayne A. Miller, Fredric D. Frigoletto Jr. Sonographic detect on of fetuses with trisomies 13 & 18 Accuracy and limitations Am J Obstet Gynecol 1988; 158:404-9.  Back to cited text no. 7    
8.Moshe Bronshtein, Aharon Liberson, Shmuel Liberson and Zeev Blumenfeld Clubfoot associated with hydrocephalus: new evidence of gradual dynamic development in utero Obstet Gynecol 1992;79:864-7   Back to cited text no. 8    

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Correspondence Address:
S V Phatak
Department of Radiodiagnosis, IGMC and Mayo Hospital Nagpur Amarjyoti X-ray and Sonography Clinic, Wardha Road, Dhantoli Nagpur-440012
India
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Source of Support: None, Conflict of Interest: None


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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]



 

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    Introduction
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    Discussion
    References
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