Special Issue "Pediatrics Limb Malformations: Generalities and Medical Aspects"

A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Pediatric Orthopedics".

Deadline for manuscript submissions: 20 February 2024 | Viewed by 786

Special Issue Editor

Dr. Francisco Soldado
E-Mail Website
Guest Editor
Pediatric Orthopedic Surgery, Hospital HM Nens, 08009 Barcelona, Spain
Interests: upper limb; hand; nerve injuries; obstetric brachial plexus palsy; cerebral palsy; arthrogryposis; congenital hand upper limb fractures; microsurgery; pediatric flaps for reconstruction; congenital pseudarthrosis of the tibia

Special Issue Information

Dear Colleagues,

Congenital limb malformations represent the second most common category of birth defects, following heart malformations. Despite this prevalence, pediatricians often lack sufficient training and knowledge in this area. This knowledge gap might be attributed to the perception that limb-related issues and surgical interventions are intricate and less appealing. However, it is imperative for pediatricians to be well-versed in recognizing and addressing these conditions.

Conditions such as syndactyly (webbed fingers/toes), polydactyly (extra digits), clinodactyly, camptodactyly, trigger thumb (crooked fingers), as well as brachydactyly, symbrachydactyly, and thumb hypoplasia (short fingers) are frequently encountered in clinical settings. These anomalies should not disconcert pediatricians, as a deeper medical and genetic understanding underlies these malformations.

Take, for instance, radial deficiencies such as radial clubhand and thumb hypoplasia. These conditions are associated with syndromes in approximately one-third of cases, some of which carry the potential for lethality. This Special issue aims to furnish pediatricians with medically pertinent information regarding genetics and their associated syndromes. Moreover, it aims to offer a comprehensive overview of management approaches, albeit with minimal emphasis on surgical interventions. The intention is to equip pediatricians with foundational insights, facilitating patient management and effective communication with families during initial consultations.

Visual aids, such as representative images, are indispensable tools within this Special Issue. These images will aid in conveying crucial information, reinforcing the textual content.

After engaging with this resource, we hope pediatricians view these malformations as important aspects of their medical practice.

Dr. Francisco Soldado
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Children is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.


  • congenital limb malformations
  • genetics
  • syndromes
  • syndactyly
  • polydactyly
  • clinodactyly
  • camptodactyly
  • trigger thumb
  • brachydactyly
  • symbrachydactyly
  • thumb hypoplasia

Published Papers (1 paper)

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10 pages, 3498 KiB  
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Children 2023, 10(10), 1715; https://doi.org/10.3390/children10101715 - 22 Oct 2023
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Background: The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process. Material and Methods: Six girls (aged 6-month–8 years) and two older girls (aged 13 and 16 years) were born with variable skin [...] Read more.
Background: The diagnostic process for children and adults manifesting a constellation of ectodermal abnormalities requires a conscientious and highly structured process. Material and Methods: Six girls (aged 6-month–8 years) and two older girls (aged 13 and 16 years) were born with variable skin lesions of varying intensities associated with noticeable cranial and skeletal malformation complexes. Cleft palate, abnormal dentition, and multiple papillomas were evident around the mouth, mostly bilateral but asymmetrical in the upper and lower limbs. Exaggerated frontal bossing (macrocephaly) and in some patients’ microcephaly with variable skeletal defects of the craniocervical junction and diverse forms of lower limb deformities of syndactyly, polydactyly, and split-hand/foot (ectrodactyly). Results: All patients manifested the constellation of abnormalities with variable intensities ranging between alopecia, papillomas, striated skin pigmentations split-hand/foot (ectrodactyly), and major bone defects. A 3D reconstruction CT scan was directed mainly to further scrutinize children with pseudo cleft lip, submucus cleft, and cleft palate. Interstingly, they manifested massive demineralization of the cranium associated with severely defective dentition. A spine 3D reconstruction CT scan in two girls showed marked cystic cavitation of the upper jaw associated with excessive cavitation of the mastoid, causing tremendous frailty of the mastoid bone. A 3D sagittal CT scan showed odontoid hypoplasia and C1-2 instability associated with the rudimentary atlas and the persistence of extensive synchondrosis of the cervico-thoracic spine. The overall clinical and radiological phenotypic characterizations were consistent with the diagnosis of focal dermal hypoplasia (Goltz syndrome). Two children manifested heterozygous mutations in the PORCN gene, chromosome Xp11. Conclusions: In this study, we believe it’s a good opportunity to share our novel scientific findings, which are intriguing and can be inspiring to readers, and to further aid the current scientific literature with exceptionally new unveiling results. This is the first comprehensive study of the cranio-skeletal malformation complex in children with GS. Full article
(This article belongs to the Special Issue Pediatrics Limb Malformations: Generalities and Medical Aspects)
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