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Year : 2004  |  Volume : 14  |  Issue : 1  |  Page : 61-64
Antenatal sonographic diagnosis of Turner's syndrome associated with achondrogensis : A case report

Prof of Radiodiagnosis, IGMC and Mayo Hospital, Nagpur, India

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Keywords: Turners syndrome, cystic hygroma, achondrogenesis

How to cite this article:
Phatak S V, Tule V, Phatak M S, Kolwadkar P K. Antenatal sonographic diagnosis of Turner's syndrome associated with achondrogensis : A case report. Indian J Radiol Imaging 2004;14:61-4

How to cite this URL:
Phatak S V, Tule V, Phatak M S, Kolwadkar P K. Antenatal sonographic diagnosis of Turner's syndrome associated with achondrogensis : A case report. Indian J Radiol Imaging [serial online] 2004 [cited 2021 Feb 28];14:61-4. Available from:

   Introduction Top

Turners syndrome is a chromosomal anomaly due to the loss of one sex chromosome resulting in a 45X Karyotype. The missing chromosome is usually paternal and syndrome is not related to mothers age. In most cases conceptions with Turner syndrome are spontaneously aborted, however some fetuses persists into second trimester with severe lymphatic obstruction. [1] It is characterized in early pregnancy by large cystic hygromata and lymphagiectasia, leading to fetal hydrops. Affected infants who survive gestation may represent Turners mosaic individuals. Those who survive have regression of cystic hygromata resulting in webbing of the neck at that site. Associated coarctation of aorta will require intervention. Long-term survival is associated with ovarian dysgenesis and relatively short stature. Occasional abnormalities include hearing impairment and mental retardation. [2] Achondrogenesis is characterized by short limbs, classified into two types a lethal type (Type I or Parenti-fraccaro and type II (Langer-Saldino). The clinical pictures overlap those of Thanatophoric dwarfism [3]. The authors present a rare association of these two entities.

Case report:- A twenty seven year old primi with five months amenorrhea presented for Sonography to rule out any congenital anomalies. During Sonography a large multiseptate cystic hygroma was noted in fetal neck. Evidence of hydrops was seen around skull and fetal abdomen. Approximate sonographic gestational age by BPD and AC was 22 Wks. Fetal limbs were extremely short. Only four fingers were seen in both feet. Because of multiseptate cystic hygroma with evidence of hydrops and short limb dwarf diagnosis of Turners syndrome was considered. Patient opted for termination of pregnancy. Radiographs and photographs of fetus were taken. Radiographs of fetus showed the features of Achondrogenesis. Karyotype study confirmed the diagnosis of Turners syndrome.

   Discussion Top

Common Pathologic and sonographic features of Turners syndrome are nonimmune hydrops, cystic hygroma, abnormal ears, brachycephaly, coarctation of aorta, small mandible, horseshoe kidney, short stature, double renal pelvis and cubitus valgus [4] Sonographically entire body is swollen resembling a space suit. There is evidence of hydrops, pleural effusion, ascitis and edema of all body parts. [1] Turner's syndrome is also associated with heart defects particularly left sided abnormalities as coarctation of aorta, aortic valve anomalies. In general approximately half of the fetuses with turners syndrome have cardiac anomalies and 19% have renal anomalies. [5] Cystic hygroma probably develops from a defect in formation of lymphatic vessels. The fetal lymphatic vessels drain into two large sacs lateral to the jugular veins in neck; these jugular lymph sacs eventually form communication with venous system and become the terminal protion of right lymphatic duct and the thoracic duct. If lymphatic and venous structures do not connect the jugular lymph sacs enlarge and lymph accumulates in tissues, cystic hygromas of posterior triangle of neck and hydrops will result. In theory if jugular lymph sacs and jugular veins then connect or an alternative route of lymphatic drainage develops before intrauterine death, the cystic hygroma may regress and peripheral edema may resolve. Webbing of neck and puffiness of hands and feet which are characteristic postnatal features of Turners syndrome would result. [6] Spontaneous resolution of fetal cystic hygroma and hydrops in Turners syndrome are described. [7] These fetuses have large cystic hygromas that are typically septate. [1] Radiologically achondrogenesis is characterized by severe micromellia and extreme delay in ossification. The humeri and femora are short and wide but not bowed, a differential point from Thanatophoric dwarfism. The bones of arm and legs are also shortend with irregular, poorly outlined and cupped metaphysis. The tubular bones are shorter and wider than normal. The salient radiological feature is failure of ossification. The cervical, lumbar, spine may not ossify nor may sacrum, pubis, ischium, talus and calcaneum. Intervertebral disc space is increased, but interpedicular distance is normal. Facial bones are disproportionately small. Ribs are short, horizontal and show flaring and irregularity at anterior margins. The scapulae are small and irregular. Clavicles are normal. The soft tissues are prominent. [3]

   References Top

1.Bery R. Benaceraf Ultrasound evaluation of Chromosomal abnormalities In Peter W.callen Ultrasonography in Obstetrics and Gynaecology 4th edition WB Saunders 2000:56   Back to cited text no. 1    
2.Beryl R Benaceraf Ultrasound of fetal syndromes Churchill Livingstone 1998:340-342.   Back to cited text no. 2    
3.George B. Greenfield radiology of bone diseases fourth edition JB Lippincott company Philadelphia 1986" 267-269   Back to cited text no. 3    
4.Jo Ann M. Johnson, David A. Nyberg chromosome abnormalities In Carol M.Rumack, Stephanie R.Wilson. J Willam Charboneau Diagnostic ultrasound Vol 2, J Willam Charboneau Diagnostic ultrasound Vol 2, second edition Mosby 1998.   Back to cited text no. 4    
5.Jones K L: Smiths recognizable patters of human malformations Philadelphia WB saunders, 1997,p 30.   Back to cited text no. 5    
6.Frank A Chivarnak Glenn Jacobson, Karin j. Blackmore et al Fetal cystic hygroma cause and natural history The new England journal of medicine 1983; 309:822-5.   Back to cited text no. 6    
7.Dorothea J. Mostello, Mary K. bofinger and Tariq A.Siddiqui Spontaneous resolution of cystic hydroma and hydrops in Turners syndrome Obstet Gynecol 1989; 73:862.   Back to cited text no. 7    

Correspondence Address:
S V Phatak
Prof of Radiodiagnosis, IGMC and Mayo Hospital, Nagpur
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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], [Figure - 6]


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