Preaxial polydactyly and other defects associated with Klippel-Feil anomaly

Area of Science:

• Medical Genetics
• Developmental Biology
• Clinical Pediatrics

Background:

• Klippel-Feil anomaly is a congenital disorder characterized by the fusion of at least two cervical vertebrae.
• It typically presents with a triad of short neck, limited neck mobility, and low posterior hairline.
• Associated anomalies can occur but are variable.

Observation:

• A 5-year-old female presented with Klippel-Feil anomaly.
• She exhibited bimanual polydactyly of the triphalangeal thumb, a hand malformation not previously reported in association with Klippel-Feil anomaly.
• Additional observed abnormalities included scoliosis, spina bifida occulta, rib agenesis, conductive hearing loss, mirror movements, unilateral renal ectopia with collecting system dilation, and microtia.

Findings:

• The primary finding is the co-occurrence of Klippel-Feil anomaly with a novel hand malformation: bimanual polydactyly of the triphalangeal thumb.
• The patient displayed a spectrum of associated congenital defects, underscoring the systemic nature of Klippel-Feil anomaly.
• This case expands the known phenotypic spectrum of Klippel-Feil anomaly.

Implications:

• This case suggests a potential genetic link between Klippel-Feil anomaly and specific limb development pathways.
• Further research is warranted to elucidate the genetic and developmental mechanisms underlying this newly described association.
• Recognition of this hand malformation in Klippel-Feil patients can aid in early diagnosis and management.