Pediatrics Limb Malformations: Generalities and Medical Aspects

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

Deadline for manuscript submissions: closed (20 February 2024) | Viewed by 2876

Special Issue Editor


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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

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Keywords

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

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Published Papers (2 papers)

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Research

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10 pages, 3498 KiB  
Article
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
by Ali Al Kaissi, Sergey Ryabykh, Vladimir Kenis, Farid Ben Chehida, Hamza Al Kaissi, Susanne Gerit Kircher and Franz Grill
Children 2023, 10(10), 1715; https://doi.org/10.3390/children10101715 - 22 Oct 2023
Cited by 1 | Viewed by 1406
Abstract
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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Review

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13 pages, 2381 KiB  
Review
Macrodactyly
by Kaja Giżewska-Kacprzak, Maximilian Śliwiński, Karol Nicieja, Lidia Babiak-Choroszczak and Ireneusz Walaszek
Children 2024, 11(7), 753; https://doi.org/10.3390/children11070753 - 21 Jun 2024
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Abstract
Macrodactyly is a rare congenital limb difference manifesting as an overgrowth of one or more fingers or toes. The pathological process affects all tissues of the ray in the hand or foot. The enlargement can significantly alter the limb’s appearance and impair its [...] Read more.
Macrodactyly is a rare congenital limb difference manifesting as an overgrowth of one or more fingers or toes. The pathological process affects all tissues of the ray in the hand or foot. The enlargement can significantly alter the limb’s appearance and impair its function. The role of a pediatrician is to distinguish isolated macrodactyly from syndromic conditions (including PIK3CA-Related Overgrowth Spectrum) or mimicking conditions to enable early interdisciplinary consultation and treatment planning. The psychological stigma associated with this often disfiguring condition necessitates support for patients and their family. We present a practical guide for physicians who might be the first to raise suspicion of macrodactyly and initiate further diagnostics to achieve adequate treatment and support for children and caregivers. Full article
(This article belongs to the Special Issue Pediatrics Limb Malformations: Generalities and Medical Aspects)
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