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VACTERL association with a cleft hand.

Noriko Endoh¹, Hiroharu H Igawa, Tsuneki Sugihara

¹Department of Plastic and Reconstructive Surgery, Sapporo General Hospital, Chuou-ku Kita 11 Nishi 13, Sapporo 060-8604, Japan. megane-11@ima.me-h.ne.jp

Congenital Anomalies

|December 20, 2003

Summary

This summary is machine-generated.

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This study details a rare case of VACTERL association, a complex congenital disorder, presenting with cleft hand (split-hands) and visceral anomalies. This finding challenges previous understandings of limb anomaly frequency in VACTERL syndrome.

Area of Science:

Developmental biology
Clinical genetics
Pediatric medicine

Background:

VACTERL association is a rare congenital disorder characterized by anomalies in the vertebrae, anus, cardiovascular system, trachea, esophagus, renal system, and limbs.
Limb anomalies in VACTERL association typically involve preaxial (thumb side) defects, with postaxial (little finger side) and cleft hand anomalies being infrequently reported.

Observation:

This report presents a unique clinical case of a patient diagnosed with VACTERL association.
The patient exhibited a rare combination of cleft hand (split-hands) and multiple visceral anomalies.

Findings:

The occurrence of cleft hand, a specific type of limb malformation, alongside visceral anomalies in VACTERL association is exceptionally uncommon.
This case highlights that postaxial limb anomalies, including cleft hand, can be associated with VACTERL, contrary to some previous observations.

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Implications:

This case expands the spectrum of limb malformations associated with VACTERL association.
Further research is warranted to understand the genetic and developmental mechanisms underlying this rare presentation.
Clinicians should consider a broader range of limb anomalies when evaluating patients with VACTERL syndrome.