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The upper and lower limb initially develops as a small bulge called a limb bud, which appears on the lateral side of the early embryo. The upper limb bud appears near the end of the fourth week of development, with the lower limb bud appearing shortly after.
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Split-Hand Malformation in a 4-Year-Old Child.

Girish Gulab Meshram1, Kanwaljeet Singh Hura2, Neeraj Kaur3

  • 1Department of Pharmacology, Postgraduate Institute of Medical Education and Research and Dr. Ram Manohar Lohia Hospital, New Delhi, India.

Case Reports in Pediatrics
|August 26, 2017
PubMed
Summary
This summary is machine-generated.

Split-hand deformity, a type of split-hand/split-foot malformation, presented in a 4-year-old child with a lobster-claw appearance. This case highlights a likely de novo mutation causing the congenital limb difference.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Orthopedics

Background:

  • Split-hand/split-foot malformation (SHFM) is a spectrum of congenital limb anomalies.
  • Split-hand deformity represents a milder end of the SHFM spectrum.
  • Understanding the genetic basis and clinical presentation of SHFM is crucial for diagnosis and management.

Observation:

  • A 4-year-old child presented with congenital split-hand malformation of the left hand.
  • The affected hand exhibited a median cleft with absence of the 3rd and 4th digits.
  • This resulted in a characteristic "lobster-claw" appearance, with modest functional impairment.

Findings:

  • The patient's split-hand deformity was characterized by syndactyly and oligodactyly.
  • No family history of similar limb malformations suggested a de novo mutation.
  • Genetic counseling was provided to the parents regarding the etiology.

Implications:

  • This case contributes to the understanding of SHFM phenotypic variability.
  • Early identification and genetic counseling are important for affected families.
  • Further research into the genetic underpinnings of de novo mutations in SHFM is warranted.