Study of the clinical features of Downs’s syndrome and relation between dermatoglyphics and congenital heart disease if any

Keziah Joseph; G. Rahul Teja; M. Srinivas

doi:10.53730/ijhs.v6nS5.10965

Authors

Keziah Joseph Associate Professor, Department of Pediatrics, Mamatha Academy of Medical Sciences, Hyderabad
G. Rahul Teja Senior Resident, Department of Pediatrics, Mamatha Academy of Medical Sciences, Hyderabad
M. Srinivas Consultant, Yashoda Hospital, Malakpet, Hyderabad

Keywords:

Down syndrome, dermatoglyphics, congenital heart disease

Abstract

Introduction: Down syndrome is one of the most common cause of congenital malformation with mental retardation seen with an estimated prevalence of 1/600 – 1/800 births. A wide range of abnormalities are seen, some of which are characteristic of Downs syndrome. Objectives and Aim: The present study was aimed at studying the various clinical features including dermatologlyphic patterns in Down syndrome and to find any correlation with congenital heart disease. Materials and Methods: 34 children £18 years with features of down syndromes were assessed for various clinical presentation and dermatoglyphic patterns analyzed. Those with congenial heart disease were also noted to check for any correlation with dermatoglyphic patterns in Downs syndrome.3 ml blood was drawn and thyroid function were recorded. Results: The majority of clinical features observed include slanted palpebral fissure, icrocephaly, epicanthal fold, macroglossia, hypotonia, flat facies, brachycephaly, high arched palate. Dermatoglyphic patterns show increased prevalence of simian crease clinodactly ulnal loops on the finger tips and atd angle >45 in the children. Statistically significant correlation was found when clinodactly of the left hand, left third inter digital space pattern, open field defect and sandal gap of the toes was compared with down syndrome children with CHD.

Downloads

Download data is not yet available.

References

Adams MM, Erickson JD, Layde PM, Oakley GP. Down's syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-60.

Ahmed I, Ghafoor T, Samore NA, Chattha MN. Down syndrome: clinical and cytogenetic analysis. J Coll Physicians Surg Pak. 2005 Jul;15(7):426-9.

Antonarakis SE. 10 years of Genomics, chromosome 21, and Down syndrome. Genomics. 1998 Jul 1;51(1):1-16.

Arrieta MI, Criado B, Martinez B, Lobato MN, Gil A, Lostao CM. Fluctuating dermatoglyphic asymmetry: genetic and prenatal influences. Ann Hum Biol. 1993 Nov- Dec;20(6):557-63.

Arrieta MI, Martinez B, Simon A, et al. quantitative and qualitative finger dermatoglyphics in the Basque Valley of Urola, Spain. Anthropol Anz 1990; 48: 65-84.

Barlow GM, Chen XN, Shi ZY, Lyons GE, Kurnit DM, Celle L, Spinner NB, Zackai E, Pettenati MJ, Van Riper AJ, Vekemans MJ, Mjaatvedt CH, Korenberg JR. Down syndrome congenital heart disease: a narrowed region and a candidate gene. Genet Med. 2001 Mar-Apr;3(2):91-101.

Bell R, Rankin J, Donaldson LJ; Northern Congenital Abnormality Survey Steering Group. Down's syndrome: occurrence and outcome in the north of England, 1985-99. Paediatr Perinat Epidemiol. 2003 Jan;17(1):33-9.

Bentley D (1975) A case of Down's syndrome complicated by retinoblastoma and celiac disease. Pediatrics 56:131–133

Book L, Hart A, Black J, Feolo M, Zone JJ, et al. Prevalence and clinical characteristics of celiac disease in Downs syndrome in a U.S. study. Am J Med Gen 2001; 98: 70–74.

Bosco JI, Rajangam S, Shankar J, Thomas IM. Dermatoglyphics in 46, XY females. J Indian Med Assoc. 2001 Aug;99(8):418-20.

Cooley WC, Graham JM Jr. Down syndrome--an update and review for the primary pediatrician. Clin Pediatr (Phila). 1991 Apr;30(4):233-53.

Cronk C, Crocker AC, Pueschel SM, Shea AM, Zackai E, Pickens G, Reed RB. Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics. 1988 Jan;81(1):102-10.

Cuckle HS, Wald NJ, Lindenbaum RH, Jonasson J. Amniotic fluid AFP levels and Down syndrome. Lancet. 1985 Feb 2;1(8423):290-1.

Cuckle HS, Wald NJ, Lindenbaum RH. Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome. Lancet. 1984 Apr 28;1(8383):926-9.

Cummins H, Talley C, Platou RV. Palmar dermatoglyphics in mongolism. Pediatrics 1950;5:241-8.

Devlin L, Morrison PJ. Accuracy of the clinical diagnosis of Down syndrome. Ulster Med J. 2004;73(1):4-12.

Fisch H, Hyun G, Golden R, Hensle TW, Olsson CA, Liberson GL. The influence of paternal age on down syndrome. J Urol. 2003 Jun;169(6):2275-8.

Gemini, S., Lolo, L. L., Sumiati, S., Ezdha, A. U. A., & Susanti, N. Y. (2022). Correlation of fiber intakes with incidence of constipation in the elderly. International Journal of Social Sciences and Humanities, 6(1), 58–65. https://doi.org/10.53730/ijssh.v6n1.3528

George D, Sayee R, Thomas IM. Dermatoglyphics in down syndrome patients with congenital heart defects. Journal of the Anatomical Society India 1995; 44(2):144-8.

Gorlin RJ, Cohen MM, Hennekam RCM. Chromosomal syndromes: common and/or well-known syndromes. Trisomy 21 syndrome (Down syndrome). In Syndromes of head and neck. 4th ed Oxford Press 2001; pp. 35–42.

Hall B. Mongolism in newborn infants. An examination of the criteria for recognition and some speculations on the pathogenic activity of the chromosomal abnormality. Clin Pediatr (Phila). 1966 Jan;5(1):4-12.

Hartley XY A summary of recent research into the development of children with Down syndrome . J Ment Defic Res 1986; 30:1-14.

Hilhorst, M.I., Brink, M., Wauters, E.A.K. et al. Down syndrome and coeliac disease: five new cases with a review of the literature. Eur J Pediatr 152, 884–887 (1993).

Hill ID, Dirks MH, Liptak GS, Colletti RB, Fasano A, Guandalini S, Hoffenberg EJ, Horvath K, Murray JA, Pivor M, Seidman EG; J Pediatr Gastroenterol Nutr. 2005 Jan;40(1):1-19.

Hook EB. Estimates of maternal age-specific risks of Down-syndrome birth in women aged 34-41. Lancet. 1976 Jul 3;2(7975):33-4.

James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, Gibson JB, Yi P, Tafoya DL, Swenson DH, Wilson VL, Gaylor DW. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr. 1999 Oct;70(4):495-501.

Jones KL. Chromosomal abnormality syndromes. Down syndrome. In: Smith’s

Jyothy A, Kumar KS, Mallikarjuna GN, Babu Rao V, Uma Devi B, Sujatha M, Reddy PP. Parental age and the origin of extra chromosome 21 in Down syndrome. J Hum Genet. 2001;46(6):347-50.

Jyothy A, Kumar KS, Rao GN, Rao VB, Swarna M, Devi BU, Sujatha M, Kumari CK, Reddy PP. Cytogenetic studies of 1001 Down syndrome cases from Andhra Pradesh, India. Indian J Med Res. 2000 Apr;111:133-7.

Källén B, Mastroiacovo P, Robert E. Major congenital malformations in Down syndrome. Am J Med Genet. 1996 Oct 16;65(2):160-6.

Karlsson B, Gustafsson J, Hedov G, Ivarsson SA, AnnerenG. Thyroid dysfunction in Down’s syndrome: relation to age and thyroid autoimmunity. Arch Dis Child 1998; 79: 242-245.

Kaur A, Mahajan S, Singh JR: Cytogenetic profile of individual with mental retardation. Int J Hum Genetics 2003, 3(1): 13-16.

Kava MP, Tullu MS, Muranjan MN, Girisha KM. Down syndrome: clinical profile from India. Arch Med Res. 2004 Jan-Feb;35(1):31-5.

Korenberg JR, Bradley C, Disteche CM. Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. Am J Hum Genet. 1992 Feb;50(2):294- 302.

Kothare S, Shetty N, Dave U: Maternal age and chromosomal profile in 160 DS cases-Experience of tertiary genetic center from India. Int J Hum Genetics 2002, 2(1):49-53.

Kurtieva, S. (2021). Adaptation capabilities of functional systems of the body of adolescents with vegetative dystonia syndrome. International Journal of Health & Medical Sciences, 4(1), 129-135. https://doi.org/10.31295/ijhms.v4n1.1622

Lai FM, Woo BH, Tan KH, Huang J, Lee ST, Yan TB, Tan BH, Chew SK, Yeo GS. Birth prevalence of Down syndrome in Singapore from 1993 to 1998. Singapore Med J. 2002 Feb;43(2):070-6.

Leonard S, Bower C, Petterson B, Leonard H. Survival of infants born with Down's syndrome: 1980-96. Paediatr Perinat Epidemiol. 2000 Apr;14(2):163-71. doi: 10.1046/j.1365-3016.2000.00252.x. PMID: 10791661.

Mäki M, Mustalahti K, Kokkonen J, Kulmala P, Haapalahti M, Karttunen T, Ilonen J, Laurila K, Dahlbom I, Hansson T, Höpfl P, Knip M. Prevalence of Celiac disease among children in Finland. N Engl J Med. 2003 Jun 19;348(25):2517-24.

Malini, S.S., Ramachandra, N.B. Influence of advanced age of maternal grandmothers on Down syndrome. BMC Med Genet 7, 4 (2006). https://doi.org/10.1186/1471-2350-7-4

McElhinney DB, Straka M, Goldmuntz E, Zackai EH. Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome. Am J Med Genet. 2002 Dec 1;113(3):238-41.

Mutton D, Ide RG, Alberman E. Trends in prenatal screening for and diagnosis of Down's syndrome: England and Wales, 1989-97. BMJ. 1998;317(7163):922-923. doi:10.1136/bmj.317.7163.922

Paladini D, Tartaglione A, Agangi A, Teodoro A, Forleo F, Borghese A, Martinelli P. The association between congenital heart disease and Down syndrome in prenatal life. Ultrasound Obstet Gynecol. 2000 Feb;15(2):104-8.

Pétremand-Hyvärinen R. Aspects morphologiques et dermatoglyphiques du syndrome de Klinefelter 47,XXY [Morphologic and dermatoglyphic aspects of Klinefelter 47,XXY syndrome (author's transl)]. J Genet Hum. 1978 Nov;26 Suppl:1-83. French. PMID: 571455.

Polin A, Ditmar MF In:Paediatric secrets 1989.Philadelphia :Hanley and Berfus Inc CV Mosby 1989.

Pueschel SM, Sassaman EA, Scola PS, Thuline HC, Stark AM, Horrobin M. Biomedical aspects in Down syndrome. In: Pueschel SM, Rynders JE, eds. Down syndrome. Advances in biomedicine and behavioral sciences. Cambridge, MA: Ware, 1982:169.

Qazi QH, Mapa HC, McGann B, Woods J. Dermatoglyphics in Down's syndrome patients of different racial origins. Am J Ment Defic. 1977 Nov;82(3):229-32.

Rao VB. Mean maternal age of Down's syndrome in Hyderabad, India. J Indian Med Assoc. 1999 Jan;97(1):25. PMID: 10549185.

Reed T. Dermatoglyphics in medicine--problems and use in suspected chromosome abnormalities. Am J Med Genet. 1981;8(4):411-29.

Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication Rika Kosaki, Kenjiro Kosaki, Kazushige Matsushima, Norimasa Mitsui, Naomichi Matsumoto, Hirofumi Ohashi

Rex AP, Preus M. A diagnostic index for Down syndrome. J Pediatr. 1982 Jun;100(6):903-6. doi: 10.1016/s0022-3476(82)80509-x. PMID: 6211531.

Schaumann B, Alter M. Dermatoglyphics in Medical Disorders. New York : Springer Verlag, 1976.

Schaumann BA, Opitz JM. Clinical aspects of dermatoglyphics. Birth Defects Orig Artic Ser. 1991;27(2):193-228.

Shiono H. Dermatoglyphics in medicine. Am J Forensic Med Pathol 1986; 7 : 120-6.

Stoll C, Alembik Y, Dott B, Roth MP. Study of Down syndrome in 238, 942 consecutive births. Ann Génét 1998; 41: 44–51.

Suryasa, I. W., Rodríguez-Gámez, M., & Koldoris, T. (2021). Get vaccinated when it is your turn and follow the local guidelines. International Journal of Health Sciences, 5(3), x-xv. https://doi.org/10.53730/ijhs.v5n3.2938

Torfs CP, Christianson RE. Effect of maternal smoking and coffee consumption on the risk of having a recognized Down syndrome pregnancy. Am J Epidemiol. 2000 Dec 15;152(12):1185-91.

Tubman TR, Shields MD, Craig BG, Mulholland HC, Nevin NC. Congenital heart disease in Down's syndrome: two year prospective early screening study. BMJ. 1991 Jun 15;302(6790):1425-7.

Venugopalan P, Agarwal AK. Spectrum of congenital heart defects associated with Down Syndrome in high consanguineous Omani population. Indian Pediatr. 2003 May;40(5):398-403.

Yang Q, Rasmussen SA, Friedman JM. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet. 2002 Mar 23;359(9311):1019-25.