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Year : 2022  |  Volume : 11  |  Issue : 3  |  Page : 176-178

A neonate with peromelia: congenital transverse deficiency of an upper limb

1 Department of Pediatrics, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Dehradun, Uttarakhand, India
2 Department of Neonatology, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Dehradun, Uttarakhand, India

Date of Submission26-Dec-2021
Date of Decision17-May-2022
Date of Acceptance18-May-2022
Date of Web Publication06-Jul-2022

Correspondence Address:
Rakesh Kumar
Department of Neonatology, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Dehradun, Uttarakhand
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcn.jcn_146_21

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Peromelia is a rare condition leading to the absence of limb. Birth of such a baby is an unexpected and emotionally disturbing event for the parents, if it was not diagnosed antenatally. Family members and especially the mother at such time need proper counseling from the health-care workers during the initial days. The management aspects including prosthesis and timing of intervention need to be informed to the parents. Here, we describe a case of peromelia with emphasis on the psychological aspect of management.

Keywords: Absent limb, congenital transverse deficiency, neonate, peromelia

How to cite this article:
Kumar R, Wasim S, Gupta G, Naithani M. A neonate with peromelia: congenital transverse deficiency of an upper limb. J Clin Neonatol 2022;11:176-8

How to cite this URL:
Kumar R, Wasim S, Gupta G, Naithani M. A neonate with peromelia: congenital transverse deficiency of an upper limb. J Clin Neonatol [serial online] 2022 [cited 2022 Nov 27];11:176-8. Available from: https://www.jcnonweb.com/text.asp?2022/11/3/176/350029

  Introduction Top

Congenital transverse deficiency or peromelia refers to congenital absence or malformation of the extremities.[1] Some part of the limb is not formed and there is a complete absence of the limb after some point.[2] One of the common causes is early amnion rupture or amniotic band.[3] The appearance of the arm is like an amputated stump. Swanson's classification is used for the classification of upper-limb deformities which has been modified by the Japanese Society for Surgery of the Hand. Transverse limb deficiencies have been subdivided into 14 groups ranging from short webbed fingers to amputation-like defects. In type, 3–14 nubbins (rudimentary fingers) are frequently associated with the defect.[4] Various factors associated with increased risk of congenital limb deficiency are young maternal age, primiparity, pregestational diabetes, exposure to antiepileptic drugs in the first trimester, exposure to pesticides, and tobacco smoke.[5],[6],[7] A disruptive event after the formation of the limb bud, affecting the apical ectodermal ridge, is thought to be the molecular pathogenesis of the transversal growth arrest of the limb.[1] The reported incidence of peromelia is 1 in 20,000 live births.[2] Association with other congenital anomalies and hereditary transmission is usually not seen.[8],[9] Herein, we report a neonate with peromelia who was otherwise stable, but the condition resulted in severe distress in the mother in the immediate postpartum period.

  Case Report Top

A neonate was born full-term, to a gravida 3, Para 2 mother, by emergency cesarean delivery for preeclampsia, who arrived in active labor and had a previous cesarean with a short interpregnancy interval. APGAR score was 9 and 10, respectively, at 1 and 5 min of delivery. There was no history of consanguinity in the parents. The mother had regular antenatal visits with no history of intake of any teratogenic drug, tobacco smoke, or radiation exposure during pregnancy. Mother was negative for human immunodeficiency virus, hepatitis B virus, and hepatitis C virus. There was no history of gestational diabetes mellitus or family history of any congenital malformations. Delivery was uneventful, but the neonate was noted to have an absent right forearm. An ultrasonographic assessment at 21 weeks of gestation was reported to be normal. At the tip of the deformity above the elbow of the right upper limb, a small paddle of nubbins was present [Figure 1]. The neonate had normal movements of the extremity from the shoulder. The left limb was normal with full shoulder, elbow, wrist, and digits with a normal range of movement at all joints. All other general and systemic findings at the time of birth were normal. There were no dysmorphic features. The birth weight of the baby was 3255 g, with a length of 51 centimeters (cm), and head circumference was 33 cm. Cord blood samples for COVID-19 IgG and IgM were negative. Ultrasound cranium, abdomen, and two-dimensional echocardiography were normal. A diagnosis of the congenital transverse deficiency of the limb was made and was explained to the parents. The baby had an uneventful nursery stay and was discharged on day 5 of life. The baby was referred to the orthopedics, where he was advised for follow-up and intervention to be considered at 3 years of age.
Figure 1: Neonate on day 1 of life

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Parent's perspective

The father accepted the information of the malformation and was not much distressed. The mother was devastated after the baby was shifted to her and needed extensive support and counseling for accepting the fact. She was appraised of the future treatment options for the condition. The neonate lost to follow-up and telephonic calls were unanswered.

  Discussion Top

Any congenital abnormality apart from affecting the neonate is also distressing news for the parents and family. Parents may experience profound grief and loss with the birth of a child with deformity and need to be supported by health-care providers. In a prospective study over a period of 16 years for prenatal diagnosis of congenital malformations, it was reported that ultrasonographic diagnosis of limb defects was low and for every three out of four babies were not diagnosed in utero.[10] Even if diagnosed early in pregnancy, parents may be distressed and require support from the health-care providers.

The main goal of treatment in such cases is to restore the function of the limb and appearance. Treatment varies with the child's age, degree of the defect, and parental preference. Various treatment options available include prosthesis, orthotics, and rehabilitation (physical and occupational).[11] The exact prosthesis to be used can be determined by evaluating factors such as cost, ease of training, and use by parents, the child, and the therapist. The age at which the first prosthesis can be fitted remains controversial. Most prostheses are advised at age of 2–3 years.[11]

Various prostheses which can be used are cosmetic (passive), body-powered (active), and myoelectric (active). A cosmetic prosthesis is used to stimulate proper body image and to provide balance. Usually, this is the first prosthesis used in infants between the age of 6 months and 2 years. A systemic review revealed lower rejection of prosthesis if fitted below 2 years of age, but it did not improve clinical outcomes, and thus, the age of the first prosthesis should be guided by clinical experience.[12]

Children with upper-limb deficiency experience both negative and positive feelings about their deficiencies even though they wore a prosthesis or not as reported in a qualitative study. These feelings were associated with how the environment accepted these children. Staring was the most common public reaction which negatively affected the self-esteem of children. The greatest positive influence on overall psychological functioning was support by parents and the treating team.[13]

The primary goal of treatment is to help children to have normal growth and development pattern and enable them to be independent. Psychological support to the family and child remains important. A study reported that the desire to explore by the child was limited by the mother's anxiety in children with hand anomalies. Parents may become overprotective which could have a detrimental effect on the child's development.[14]

As the child grows, to look beyond the defect and negate the self-consciousness about the defect is to be achieved with the support of the family. Health-care staff can model support by gaining the trust of the family with regular counseling sessions.

  Conclusion Top

Any neonate with limb deficiency should be exhaustively evaluated for any other associated congenital malformation. A family with a deformed baby, especially the mother, needs immense support and counseling during the initial days. The future psychological and functional aspects should be kept in mind and early rehabilitative measures should be initiated as early as feasible for an optimal outcome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Farr S, Catena N, Martinez-Alvarez S, Soldado F, EPOS Upper Limb Study Group. Peromelia – Congenital transverse deficiency of the upper limb: A literature review and current prosthetic treatment. J Child Orthop 2018;12:558-65.  Back to cited text no. 1
Jain S, Lakhtakia PK. Profile of congenital transverse deficiencies among cases of congenital orthopaedic anomalies. J Orthop Surg (Hong Kong) 2002;10:45-52.  Back to cited text no. 2
Wilcox WR, Coulter CP, Schmitz ML. Congenital limb deficiency disorders. Clin Perinatol 2015;42:281-300, viii.  Back to cited text no. 3
Iba K, Horii E, Ogino T, Kazuki K, Kashiwa K, Congenital Hand Committee of Japanese Society for Surgery of the Hand. The classification of swanson for congenital anomalies of upper limb modified by the Japanese Society for Surgery of the Hand (JSSH). Hand Surg 2015;20:237-50.  Back to cited text no. 4
Syvänen J, Nietosvaara Y, Hurme S, Perheentupa A, Gissler M, Raitio A, et al. Maternal risk factors for congenital limb deficiencies: A population-based case-control study. Paediatr Perinat Epidemiol 2021;35:450-8.  Back to cited text no. 5
Perry MF, Mulcahy H, DeFranco EA. Influence of periconception smoking behavior on birth defect risk. Am J Obstet Gynecol 2019;220:588.e1-7.  Back to cited text no. 6
Carmichael SL, Yang W, Roberts E, Kegley SE, Brown TJ, English PB, et al. Residential agricultural pesticide exposures and risks of selected birth defects among offspring in the San Joaquin Valley of California. Birth Defects Res A Clin Mol Teratol 2016;106:27-35.  Back to cited text no. 7
Tadchjian MO. Congenital deformities. In: Pediatric Orthopedics. 2nd ed., Vol. 1. Philadelphia: W.B. Saunders; 1990. p. 104-12.  Back to cited text no. 8
Kozin SH. Upper-extremity congenital anomalies. J Bone Joint Surg Am 2003;85:1564-76.  Back to cited text no. 9
Richmond S, Atkins J. A population-based study of the prenatal diagnosis of congenital malformation over 16 years. BJOG 2005;112:1349-57.  Back to cited text no. 10
Shaperman J, Landsberger SE, Setoguchi Y. Early upper limb prosthesis fitting: When and what do we fit. J Prosthet Orthot 2003;15:11-7.  Back to cited text no. 11
Meurs M, Maathuis CG, Lucas C, Hadders-Algra M, van der Sluis CK. Prescription of the first prosthesis and later use in children with congenital unilateral upper limb deficiency: A systematic review. Prosthet Orthot Int 2006;30:165-73.  Back to cited text no. 12
de Jong IG, Reinders-Messelink HA, Janssen WG, Poelma MJ, van Wijk I, van der Sluis CK. Mixed feelings of children and adolescents with unilateral congenital below elbow deficiency: An online focus group study. PLoS One 2012;7:e37099.  Back to cited text no. 13
Bradbury E. The psychological and social impact of disfigurement to the hand in children and adolescents. Dev Neurorehabil 2007;10:143-8.  Back to cited text no. 14


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