TETRA - A Case Report Dr Linda Touman1,MD, MRCOG, Mr Mandeep Singh2MD, MRCOG 1 Senior Obstetrics and Gynecology Registrar, Former Fetal Medicine Research Fellow, Southend University Hospital NHS Foundation Trust, Essex, UK. 2 Maternal Fetal Medicine Consultant, Kypros Nicolaides Fetal Medicine Unit (FMU), Southend University Hospital NHS Foundation Trust, Essex, UK. 08/01/2019

ABSTRACT DISCUSSION § We are presenting a rare case of Tetra-Phocomelia diagnosed by first trimester scan performed at 12 weeks of pregnancy. § Development of limb buds starts from the 26th day of intrauterine life and by the end of the 14th § The postmortem examination confirmed the findings. week, they are fully formed. Any disturbance in this pattern can result in limb malformations. § This is one of the rarest cases which have been reported so far in view § Tetra-Phocomelia syndrome is a congenital disorder associated with a near or complete absence of of the early gestational age at the time of diagnosis. all 4 limbs. § Phocomelia can occur as an isolated skeletal defect or can be associated with other visceral anomalies like Renal, craniofacial, cardiac and uterine anomalies. INTRODUCTION § The most common cause of congenital limb is vascular disruption defects, such as amniotic band. Figure -4 Figure -5 § Intrauterine reduction defects of the limbs occur when a part of or the entire limb of a fetus fails to form. The upper extremities are more § Other causes include: Teratogenic agents (e.g., thalidomide, vitamin A), Substance abuse like cocaine or alcohol, gestational diabetes, use of X-ray radiation, fetal chromosomal anomalies like Figure 4, A scan of the fetus showing the foot attached to the body. commonly affected. Figure 5, Nuchal thickness measurement in the fetus showing an increased NT § The minor limb anomalies are relatively common and can usually be trisomy 18 or genetic inheritance (autosomal recessive trait mutation linked to chromosome 8) of 7.7 mm. corrected surgically but the major ones are more complex and are § When a genetic syndrome is suspected, evaluation should include a thorough assessment for other mostly caused by genetic or environmental factors. physical, chromosomal and genetic abnormalities by a clinical geneticist. Typically, x-rays are § Tetra Phocomelia is a rare congenital appendicular musculoskeletal required to determine which bones are involved. CONCLUSIONS malformation with a subnormal length of the long bones. § Antenatal ultrasonography remains the hallmark for detecting all fetal anomalies including that of § It is seen in about 0.62 per 100,000 live births. § Most cases are due to primary intrauterine growth inhibition or limbs. § Tetra Phocomelia is a severe combination of limb defects in which total or disruptions secondary to intrauterine destruction of normal embryonic § Cytogenetic testing can be performed in cases with suggestive clinical findings partial agenesis of upper and lower limbs is seen, leading to the proximity of tissues. § Individuals carrying phocomelia syndrome will generally show symptoms of growth retardation limbs to the trunk of the fetus. previous to and after birth. The syndrome can also cause severe mental deficiencies in infants. § Such cases are isolated or associated with other anomalies. CASE PRESENTATION § While there is no cure for phocomelia, treatment options have advanced in the recent years. § Various causes have been attributed to the disease like some drugs, diabetes, genetic..etc § Prosthetics can be used in place of absent limbs, and physical, occupational, and speech therapy § Typically the symptoms of phocomelia syndrome are undeveloped limbs, We are presenting an interesting case of a 32 years old patient with an are among the therapies used to promote the quality of life of the patient. mental deficiencies, and craniofacial anomalies. unremarkable medical history, who attended to the Fetal Medicine Unit at § Prosthetic devices are most valuable for lower-limb deficiencies and for completely or almost § There is no specific treatment for phocomelia, Prosthetic devices can be Southend University Hospital at 12 weeks and 4 days into her first completely absent upper limbs. If any activity in an or hand exists, no matter how great the useful in some cases. pregnancy, for the dating scan. A single live intrauterine pregnancy malformation, functioning capacity must be thoroughly assessed before prosthesis or surgical identified. There was a marked increase of the measurement of the Nuchal Thickness of the fetus (NT 7.7), both fetal feet and hands were found to be procedure is recommended. Various types of surgery are used to rectify deformations of the face.. REFERENCES closely attached to the body. There was a degree of micrognathia, with narrowing of the Fetal chest. No other abnormalities were identified on the scan. The risk for T21 was 1 in 7. In view of these findings, a discussion was given about the diagnosis of 1. "Phocomelia Syndrome". National Organization for Rare Disorders. 11 tetra phocomelia, prognosis and the expected outcome in terms of the October 2007. limbs anomalies. Options of conservative management or termination of 2. Phocomelia Syndrome - A Case Report, Gayatri S. Chakre, S. U. Chakre , pregnancy were given. The couple opted for ending up the pregnancy P. R. Kulkarnil, Dr. V. M. JKIMSU, Vol. 1, No. 2, July-Dec. 2012 medically and agreed for a post-mortem examination which was 3. Tetra-Phocomelia: A case Report: R. Ramana Rao and B. Narasinga Rao, performed later and confirmed a diagnosis of four limbs phocomelia, with Indian Journal of Medical Case Reports , 2012 Vol. 1 (2-3) Jul.-Sept. & four ray in the upper limbs. Oct.-Dec., pp.20-22. Genetic study of the baby revealed a normal male karyotype with 4. Tetra-Phocomelia: The Seal Limb Deformity - A Case Report : Sunil essentially normal genetic makeup. Of note is that, there was no history of Kumar Samal1, Setu Rathod2, Seetesh Ghos e3, Journal of Clinical and drug intake, radiation exposure, maternal diabetes or family history of Diagnostic Research. 2015 Feb, Vol-9(2): QD01-QD02 congenital anomalies to support the occurrence of tetra-phocomelia in this 5. Tetra-Phocomelia: A Rarest of Rare Case: Anil Kumar Shukla1, S.C. baby. Sanjay2, L. Krishna3, N. Krishnappa4, Journal of Clinical and Diagnostic Research. 2015 Mar, Vol-9(3): TD03-TD04 6. Congenital of Limbs: Meromelia: Sunita Nayak1, CONTACT Muktikanta Khatua2, Suren Prasad Dash3 , Journal of Dental and Medical Figure -1 Figure -2 Figure -3 Sciences , Volume 15, Issue 6 Ver. II (June. 2016), PP 106-108 Dr Linda Touman www.iosrjournals.org MD, MRCOG, Fetal Medicine Diploma Figure 1, 3D scan of the fetus at 12wks showing very shortened limbs. Figure 2, A scan at the level of the 7. The Fetal Medicine Foundation , Abnormalities by system, limb deficiency Email: [email protected] or ambutaion: https://fetalmedicine.org/education/fetal- Phone: 07923270168 showing the left hand of the fetus attached directly to the body. Figure 3, A scan of the same fetus showing the very abnormalities/extremities/limb-deficiency-or-amputation Southend University Hospital NHS Trust shortened right limb and the foot originating from the fetal body.