A Supra-Numerary Limb Grafted Onto a Sacrococcygeal Mass in a Child With Spinal Dysraphism: Case Report, Dysmorphogenesis, and Management Review

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2025-02-04 DOI:10.1002/bdr2.2447

Kaylene Freitas, Leonor Castro, Carla Pilar, Catarina Barreira, Rosete Nogueira, Jenny Gonçalves

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Abstract

Background

Externally attached supra-numerary body structures are a rare congenital malformation. Dysmorphogenesis remains controversial, hence many different classifications have been proposed over the years. We report a case of a supra-numerary lower limb grafted onto a sacrococcygeal mass in a child with a myelomeningocele. Prevailing theories for its origin are revised as well as prenatal and postnatal management.

Case

The case relates to a female neonate with a third lower limb grafted to a lumbosacral mass found upon birth. Postnatal imaging revealed a lipomyelomeningocele and a supra-numerary limb. Surgical intervention was performed on day seven of life with removal of the supra-numerary limb and correction of the dural defect. Anatomopathologic study revealed mature and dysplastic tissues of the three germlines. The infant was discharged after 16 days to follow-up by a multidisciplinary team. In early follow-up, minor asymmetry in lower limb mobility, peri-anal anesthesia, and bladder incontinence was present. Currently 8 years old, the patient has no motor or sensory dysfunction.

Conclusions

This case challenges the existing theories for conjoined twinning, as they do not fully explain the co-occurrence of neural tube defects in sacrally fused supra-numerary structures. Whether these malformations are entities of a single disease spectrum or the result of independent dysmorphogenesis is debated. Prenatal diagnosis with sequential investigation of morphogenesis as well as postnatal anatomopathological examination are crucial for a better understanding of complex biologic processes.

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.