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 Table of Contents  
Year : 2022  |  Volume : 11  |  Issue : 2  |  Page : 73-78

The spectrum of external dysmorphic features among newborns

1 Senior Resident, Department of Anatomy, Mandya Institute of Medical Sciences, Mandya, Karnataka, India
2 HOD and Professor, Department of Anatomy, Mandya Institute of Medical Sciences, Mandya, Karnataka, India

Date of Submission13-Nov-2021
Date of Decision08-Mar-2022
Date of Acceptance17-Mar-2022
Date of Web Publication26-May-2022

Correspondence Address:
O Sunil
1/48, Akshara layout, kattigenahalli, yelahanka, Bengaluru 560 064, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/NJCA.NJCA_141_21

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Background: There is a frequent underreporting of minor congenital anomalies. The present study was conducted to identify and record the birth defects (external dysmorphism) among newborns delivered in district hospital attached to Mandya Institute of Medical Sciences, Mandya, for a duration of 1 year. Methodology: After obtaining the parent's written informed consent, newborns were examined for birth defects (visible external dysmorphic features). The details were recorded in the self-designed proforma, and findings/data were statistically studied. Birth defects were analyzed using the WHO International Classification of Diseases 10 reference guide. Results: During the present study, 502 live newborns were examined physically for external dysmorphic features and 17 cases were diagnosed as external congenital dysmorphism. In the present study, the frequency of congenital external dysmorphism was 3.4% and the most common system involved was a musculoskeletal system followed by cutaneous and central nervous system anomalies. We report five cases of talipes equinovarus, two cases of preauricular skin tags, one case each of polydactyly, syndactyly, harlequin ichthyosis, VACTERAL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association, Down syndrome, spina bifida cystica, spina bifida occulta, preauricular tags, preauricular sinus, cleft hard palate, and cleft lip with palate among other congenital anomalies noted. Conclusion: In the present study, the frequency of congenital external dysmorphism was 3.4% and the most common system involved was a musculoskeletal system (41.2%).

Keywords: Anomalies, congenital, malformation, multicentric, polydactyly

How to cite this article:
Sunil O, Trinesh Gowda M S. The spectrum of external dysmorphic features among newborns. Natl J Clin Anat 2022;11:73-8

How to cite this URL:
Sunil O, Trinesh Gowda M S. The spectrum of external dysmorphic features among newborns. Natl J Clin Anat [serial online] 2022 [cited 2022 Jul 4];11:73-8. Available from: http://www.njca.info/text.asp?2022/11/2/73/346071

  Introduction Top

Congenital anomalies are referred to as functional or structural defects that occurs during preembryogenesis and embryogenesis period of fetal life and may be diagnosed prenatally using appropriate diagnostic tests, at the time of birth, or may be detected later in infancy and childhood, for example, sensorineural hearing loss.[1] Serious birth defects can be lethal. For those who survive, these disorders can cause lifelong mental, physical, auditory, or visual disabilities. Serious congenital anomalies lead to death in more than 95% of the cases.[2] The congenital anomalies accounts for 8%–13% of perinatal deaths and 12%–15% of neonatal deaths in India.[3],[4] The exact prevalence of congenital anomalies varies in different areas and among different populations. The long-term survival of the neonates with external dysmorphism is much lower than normal children.[5] Despite the high frequency of congenital anomalies, the underlying causes for most remain obscure in 50% of the cases. In 2010, congenital anomalies were estimated to be the fifth largest cause of neonatal death.[6] Spectrum of external dysmorphic varies from minor birth defects to major birth defects. Major congenital anomaly is defined as functional or structural that is of prenatal origin, present at the time of birth, and affecting the health, survival, or physical or cognitive functioning of the individual. It can be classified as major internal structural defect, major external structural defect, and functional defects. Major congenital anomalies have medical, surgical, and cosmetic significance. Major internal structural defects are holoprosencephaly, anencephaly, iniencephaly, encephalocele, tracheoesophageal fistula, craniorachischisis, Arnold–Chiari malformation, tetralogy of Fallot, truncus arteriosus, hypoplastic left heart syndrome, patent foramen ovale, patent ductus arteriosus, congenital diaphragmatic hernia, renal agenesis, rectal stenosis, and gastroschisis. Major external structural defects are cleft lip with palate, oblique facial cleft, microcephaly, craniosynostosis, mandibulofacial dysostosis, phocomelia, congenital talipes equinovarus (CTEV), spina bifida occulta, and spina bifida cystica. Minor congenital anomalies are structural changes that pose no significant life-threatening health problem in the neonatal period and possess limited physical, social, and cosmetic consequences in the affected individuals. Functional congenital anomalies are sickle cell anemia, thalassemia, congenital mental retardation, alkaptonuria, and phenylketonuria. Minor congenital anomalies include cleft lip without cleft palate, preauricular skin tag, preauricular pits, cryptotia, brachydactyly, polydactyly, and syndactyly.[7],[8]

The etiology of majority of human malformations is unknown. A significant proportion of congenital malformations likely to has genetic components. The newly published findings described genetic causes for malformations or syndromes whose etiology was previously listed as unknown. Malformations with an increased recurrent risk such as cleft lip and palate, anencephaly, spina bifida, certain congenital heart diseases (pyloric stenosis, hypospadias, inguinal hernia, talipes equinovarus, and congenital dislocation of the hip) fit in the category of multifactorial disease as well as in the category of polygenic inherited disease. The multifactorial/threshold hypothesis postulates the modulation of a continuum of genetic characteristics by intrinsic and extrinsic (environmental) factors. In evaluating children with congenital malformations, the causes may be classified into one of listed categories:

  1. Single-gene mutations, occurring in 6% of children with congenital anomalies.
  2. Chromosomal disorders, accounting for approximately 7.5%
  3. Multifactorial inherited conditions, accounting for 20%
  4. Consisting of both genetic and environmental factors are
  5. Disorders that show an unusual pattern of inheritance, accounting for 2%–3%
  6. Conditions caused by exposure to teratogens, accounting for 6%.

Although the human embryo is well protected in the uterus, certain environmental agents called teratogens may cause developmental disruptions following maternal exposure to them. Wilson's principles of teratology postulate that teratogens act with specificity. A teratogen produces a specific abnormality or constellation of abnormalities. For example, thalidomide produces phocomelia, and valproate produces neural tube defects. This specificity also applies to species, because drug effects may be seen in one species and not in another. The best example is cortisol, which produces cleft palate in mice but not in humans. Congenital disorders are the major cause of newborn deaths within the perinatal period, which can result in long-term disability with a significant impact on individuals, families, societies, and health-care systems. Prenatal diagnosis of congenital disease provides information for making informed decisions during pregnancy and appropriate treatment in the perinatal period (timed delivery in tertiary care centers), it is assumed to improve perinatal and long-term outcomes. Preventive public health services must work to reduce the frequency of certain external dysmorphism/defects through the early detection and management of risk factors or reinforce protective factors. Adolescent women and mothers should have a healthy balanced diet, adequate intake of minerals and vitamins, particularly folic acid, iron in adolescent women and mothers. Measures and awareness for mothers to avoid harmful teratogenic substances such as alcohol and tobacco, reducing environmental exposure to hazardous agents (heavy metals and pesticides) during antenatal and perinatal period, strengthening in terms of education and training of professional health staff and those responsible for the promotion of preventive measures for external dysmorphism and screening procedures for infections agents, such as toxoplasmosis, rubella, cytomegalovirus, syphilis, varicella-zoster, parvovirus B19, and herpes infections. Establishment of reforms and policies for surveillance, registration and monitoring of congenital anomalies, and to allow swift evaluation of national interventions policies, such as fortification of the food supply with iron, iodine, Vitamin A, Vitamin D, folic acid, etc.[6],[8]

Periconception medical services should assist the mother to attain appropriate health and well-being at the beginning and the whole course of pregnancy to establish a normal pregnancy and delivery without any unfortunate pregnancy. This may include general diagnostic tests to screen for the risk of congenital anomalies.[9],[10] Health professionals should be trained to diagnose birth defects early and know when to refer a patient for specialized treatment. Few studies have been conducted in different geographic areas worldwide. More studies in India have to be done in different population groups and hospitals of the country, to ascertain the real magnitude of this health issue, which is an important cause of infant morbidity/mortality. Therefore, it is imperative to conduct research and identify the newborns with birth defects in every health-care center of the country and correct, treat, and prevent them at early age, and by referring them to appropriate pediatric specialists for early intervention. The objective of the study is to diagnose and record congenital external dysmorphic features among live newborns and study the spectrum of external dysmorphism by classifying them in accordance with the WHO International Classification of Diseases (ICD-10) system. Because of underreporting and false reporting, the main magnitude of congenital anomalies is buried deep. A uniform reporting system has to be formulated to assess the burden of the congenital anomalies. The congenital anomalies have to be categorized in accordance with the ICD, so as to ascertain the possibility of missing minor congenital anomalies such as polydactyly and syndactyly.

  Materials and Methods Top

In a hospital-based cross-sectional study, newborns delivered in the district hospital, Mandya Institute of Medical Sciences, Mandya, for a duration of 1 year from May 2018 to April 2019 were examined after getting consent from parents. The newborn was examined from head to toe for visible external dysmorphic features, and the details were recorded in the predesigned proforma. The population for study was selected using convenient sample, keeping in view the operational feasibility. The diagnosis was confirmed by neonatologist after careful history taking and physical examination. Only live newborns delivered in district hospitals were included in the study. Exclusion criteria were abortions, stillbirths, and early and midtrimester pregnancy loss. Birth defects were analyzed using WHO ICD 10 reference guide. Photographs of the newborns with external birth defects/dysmorphism were taken for keeping record of the defect. In addition, the inpatient number and other patient details were kept in record for further follow-up and referral services by District Early Intervention Centre (DEIC) for newborns with external dysmorphic features to obtain further management. Descriptive statistics comprising proportion and percentage were used to describe the data obtained from the study, and graphical representation[11] was done using IBM SPSS 24 software (IBM SPSS Inc, Chicago, USA). Prior ethical clearance was obtained from the Institutional Ethics Committee (MIMS/IEC/2018/257 dated 17-10-2018) for conducting the study and examining the newborns.

  Results Top

During the present study, 502 live newborns were examined physically for external dysmorphic features and 17 cases were diagnosed as external congenital dysmorphism. The final diagnosis was approved by the neonatologist after meticulous examination, and the findings were recorded in a predesignated proforma. The frequency was found out to be 3.4%.

Neonates with CTEV (Congenital Talipes Equinovarus) presented with small heel fixed in equinus deformity, foot inverted and deep creases are present on the medial aspect. Physical examination and X ray of ankle joint in anteroposterior view and dorsiflexion lateral view showed exaggerated medial longitudinal arch at midfoot, forefoot in adduction at tarsometarsal junction, hindfoot rotated inward at talonavicular joint and foot fixed in plantar flexion at ankle joint [[Figure 1] and [Figure 2], [Table 1] serial no. 1]. Neonate with right foot equinus deformity presented with small heel. On examination showed foot right foot fixed in plantar flexion at ankle joint [[Figure 3], [Table 1] serial no. 1]. The neonates were referred to orthopedic outpatient department for further management.
Figure 1: Congenital talipes equinovarus

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Figure 2: Cleft lip with palate

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Table 1: Coding of External Dysmorphic Features according to ICD-10 classification system

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Figure 3: Preauricular sinus

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Neonates with polydactyly and syndactyly presented with no other clinical features, they were monitored for 48 hours and discharged after thorough examination. Neonates with preauricular sinus [[Figure 4], [Table 1] serial no. 4] and preauricular skin tags [[Figure 5] and [Figure 6], [Table 1] serial no. 5] presented with no additional clinical features, blood investigations and abdomen ultrasonography was performed to evaluate congenital renal anomalies. No abnormality was detected and the neonates were discharged within 72 hours. Neonate with cleft lip and cleft palate [[Figure 7], [Table 1] serial no. 10 & 11] were immediately referred to District Early Intervention Centre (DEIC) for further management. The neonates were followed up and they were planned for correction surgery after 6 months. They were provided with feeding aid prosthesis and the parents were educated regarding the same.
Figure 4: Harlequin ichthyosis

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Figure 5: Preauricular skin tags

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Figure 6: VACTERL Association: Showing Imperforate anus, double bubble sign in radiography suggesting duodenal atresia

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Figure 7: Congenital equinus deformity

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Neonate with spina bifida occulta presented with tuft of hair in the lumbosacral region, no other defect was observed. X ray of the lumbosacral region was done, defect in the lamina of 4th lumbar vertebra was detected. A thorough neurological examination was done in the neonatal intensive care unit and could not detect any additional abnormality. The neonate was discharged and asked the parents to monitor the developmental milestones of the baby. Neonate diagnosed with spina bifida cystica showed cystic mass in the lumbar region, ultrasonography was done to evaluate the level of defect and involvement of spinal cord and spinal nerves. Ultrasonography detected cystic swelling with defect in the body and lamina of 2nd lumbar vertebra with protrusion of spinal nerves into the cystic swelling. The neonate was referred to DEIC for further multidisciplinary management. Neonate with VACTERAL association [[Figure 8], [Table 1] serial no. 7] on examination was initially diagnosed as imperforate anus [Figure 9]. On further physical and radiological examination, Esophageal atresia and Duodenal atresia was detected [Figure 10]. An echocardiography was done by cardiologist, Tetrology of Fallot was diagnosed. The neonate was referred to DEIC for surgical management.

Neonate with Downs syndrome showed features such as upslanting eyes, flat facial features, macroglossia and simian crease in both palm of hand [[Figure 11], [Table 1] serial no. 8]. The neonate was referred to Centre for Human Genetics (CHG), Bangalore for Karyotyping. Karyotyping report showed trisomy of the 21st chromosomal position.

Neonate with Harlequin Ichthyosis presented with plaques of rigid fixed skin, separated by deep red fissures, facial features were obliterated by thickened skin, yellow in color, underdeveloped flattened nose with absence of external nostrils and flattened pinna, severe ectropion of both the palpebral fissures and eclabium involving both upper and lower lip [[Figure 12], [Table 1] serial no. 6]. Intensive care was given in neonatal intensive care unit. The newborn was placed in a humidifier to prevent dehydration and hypothermia. The vitals were closely monitored and survival was prolonged by systemic retinoids 1mg/kg body weight. The neonate succumbed to respiratory failure few days later unfortunately.

  Discussion Top

During the study period, 502 live newborns were examined, of which 17 (3.4%) of the cases were diagnosed with external dysmorphic features, which is consistent with the prevalence observed by other investigators around the globe (3%–6%). Worldwide prevalence is 3%–5% but varies from country to country. In the present study, the frequency is relatively low compared to 8% reported in Pakistan and in hospital neonatal unit-based study of countries such as Oman and Bahrain reported 2.5% and 2.7%, respectively.[9] Various studies show conflicting results in developing countries like India, one such study conducted by Sarkar et al.[12] in Eastern India showed a prevalence rate of 2.22% and Khan et al.[13] in Peshawar, Pakistan reported 2.9%. Statistical reports in a developed country like Australia reported a prevalence of 1.7%.[14]

Concerning the spectrum of congenital external dysmorphism, in the present study, the most common system involved as depicted in [Graph 1] was musculoskeletal system (41.2%), followed by cutaneous (23.5%), syndromic babies with multiple anomalies (11.8%), central nervous system (11.8%) and others (11.8). Basavanthappa et al.[15] in their study found that musculoskeletal malformations were the most common external dysmorphism and accounted for 27.5% of all the malformations in a tertiary care centre of South India. Out of 93 congenital anomalies, they reported 25 musculoskeletal congenital anomalies. In a study in West Bengal, by Pal et al.[16] the cardiovascular, musculoskeletal, and genitourinary system were regarded as the commonly affected body systems. However, some studies recorded higher incidence of CNS malformations followed by GIT and musculoskeletal system, whereas Bai et al.[17] reported GIT malformations as the most common one. In a study by Ameen et al.[18] in Iraq, the central nervous system, musculoskeletal, and gastrointestinal system were most commonly involved. On the contrary Ahmed et al.[19] in their study in Bangladesh reported cardiovascular and musculoskeletal system as frequently involved system in external dysmorphism.

Multicentric and community-based studies have to be conducted to get a large sample size for accurate estimation of the burden of the external dysmorphic features in newborns and cover the target population. Moreover, the results of the study can be utilized to plan effective preventive programs and guide the policymakers to implement programs for effective management of birth defects. Subsequently, this forms a guideline to establish birth defect registry in hospital and referral of the birth defect cases to DEIC at the earliest for effective management of the neonate/infant.

  Conclusion Top

In the present study, out of the 502 newborn babies which were examined, 17 cases showed congenital external dysmorphism of various types. The frequency of external dysmorphic features in the present study is 3.4%. The external dysmorphism was patterned, the musculoskeletal system showed the highest proportion (41.2%).

The authors sincerely thank those who donated their bodies to science so that anatomical research could be performed. Results from such research can potentially increase humankind's overall knowledge that can then improve patient care. Therefore, these donors and their families deserve our highest gratitude.[20]

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Conflicts of interest

There are no conflicts of interest.

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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]

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