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Peer-reviewedCC BY 4.0Cureus

Tetramelic Monodactyly With Neonatal Encephalopathy: A Case Report

  • Satish Koirala1
  • Miguel Barajas2
  • Christian Castillo Curiel3
  • Ghanshyam Agarwal4
  • Rajesh Dudani5
5 affiliations
  1. 1Neonatology, Cook County Health, Chicago, USA
  2. 2Genetics, University of Illinois Chicago, Chicago, USA
  3. 3Pediatrics/Neonatology, John H. Stroger, Jr. Hospital of Cook County, Chicago, USA
  4. 4Neonatology, Saint Mary of Nazareth Hospital, Chicago, USA
  5. 5Pediatrics, John H. Stroger, Jr. Hospital of Cook County, Chicago, USA
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Abstract

Congenital limb defects are etiologically heterogeneous congenital malformations, with genetic causes being one of the major contributors. We report a neonate with limb anomalies and severe encephalopathy in whom rapid trio whole-genome sequencing identified a pathogenic duplication at 10q24.31q24.32. A near-term male neonate presented with bilateral radial and tibial ray aplasia, with preserved ulnar and fibular elements, resulting in tetramelic monodactyly of the fifth digits. Family history revealed an apparent autosomal dominant pattern, with the patient’s father and older sister similarly affected. In the first days of life, the patient developed unexplained apnea, respiratory failure requiring mechanical ventilation, and severe diffuse encephalopathy on continuous EEG monitoring. Brain MRI, head ultrasound, and metabolic workup were unremarkable. Echocardiography showed normal cardiac anatomy. Trio rapid whole-genome sequencing demonstrated a 10q24 duplication, a locus previously associated with split-hand/foot malformation. This genetic variant in this family leads to tetramelic monodactyly of the fifth digits across at least two generations.

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Cite

BibTeXRIS
BibTeX
@article{koirala2026tetramelic,
  title = {{Tetramelic Monodactyly With Neonatal Encephalopathy: A Case Report}},
  author = {Satish Koirala and Miguel Barajas and Christian Castillo Curiel and Ghanshyam Agarwal and Rajesh Dudani},
  journal = {Cureus},
  year = {2026},
  month = oct,
  doi = {10.7759/cureus.117484},
  url = {https://doi.org/10.7759/cureus.117484},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Tetramelic Monodactyly With Neonatal Encephalopathy: A Case Report
AU  - Satish Koirala
AU  - Miguel Barajas
AU  - Christian Castillo Curiel
AU  - Ghanshyam Agarwal
AU  - Rajesh Dudani
PY  - 2026
DA  - 2026/10/05
JO  - Cureus
DO  - 10.7759/cureus.117484
UR  - https://doi.org/10.7759/cureus.117484
AB  - Congenital limb defects are etiologically heterogeneous congenital malformations, with genetic causes being one of the major contributors. We report a neonate with limb anomalies and severe encephalopathy in whom rapid trio whole-genome sequencing identified a pathogenic duplication at 10q24.31q24.32. A near-term male neonate presented with bilateral radial and tibial ray aplasia, with preserved ulnar and fibular elements, resulting in tetramelic monodactyly of the fifth digits. Family history revealed an apparent autosomal dominant pattern, with the patient’s father and older sister similarly affected. In the first days of life, the patient developed unexplained apnea, respiratory failure requiring mechanical ventilation, and severe diffuse encephalopathy on continuous EEG monitoring. Brain MRI, head ultrasound, and metabolic workup were unremarkable. Echocardiography showed normal cardiac anatomy. Trio rapid whole-genome sequencing demonstrated a 10q24 duplication, a locus previously associated with split-hand/foot malformation. This genetic variant in this family leads to tetramelic monodactyly of the fifth digits across at least two generations.
SN  - 2168-8184
ER  -