Radial aplasia - VACTERL association
1-day-old baby girl born at 34 weeks gestation, NSVD, 2.5kg birth weight with limb anomalies, verterbral anomalies, imperforated anus, recto-vestibular fistula, right-sided hydronephrosis, hydroureter, and large ureterocele.
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The first image of baby's right upper extremity demonstrates absence of the radius, thumb and index finger, consistent with radial aplasia.
The second image (left upper extremity) demonstrates normal appearing radius and absence of the thumb.
This baby had four out of the six congenital malformations consistent with VACTERL association. Most clinicians and researches require the presence of at least three component features for diagnosis. Limb malformations, classically defined in VACTERL association as radial anomalies, including thumb aplasia/hypoplasia, have been reported in approximately 40-50% of cases. It is important to perform a thorough physical exam on baby's with limb anomalies, examining each organ system, to rule out similar disorders in the differential diagnosis.
This case was submitted with supervision and input from:
Soni C. Chawla, M.D.
Department of Radiological Sciences
David Geffen School of Medicine at UCLA
Olive View - UCLA Medical Center
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- 2. Chen Y, Liu Z, Chen J et-al. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. J. Med. Genet. 2016;53 (7): 431-7. doi:10.1136/jmedgenet-2015-103554 - Free text at pubmed - Pubmed citation