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Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child.

ABSTRACT: Ulnar hypoplasia is a rare longitudinal limb deficiency in which the ulna shows various degrees of deficiency. The condition is normally associated with radial defects, and in severe cases there is a reduction of postaxial/ulnar digits. Ulnar deficiency is an integral part of several syndromic malformations like Weyer's oligodactyly syndrome, limb/pelvis hypoplasia/aplasia syndrome, and ulnar-mammary syndrome. Here, we report an isolated unilateral ulnar deficiency in a boy who was a product of a consanguineous marriage. The subject demonstrated mesomelic shortening of the left arm with reduced zeugopod and autopod, and preaxial absence of two fingers. Additional findings in the affected limb were severe flexion contracture at the elbow joint, reduced and narrow palm, hypoplastic digits, and clinodactyly. Roentgenographic study revealed rudimentary ulna, dysplastic and posteriorly dislocated radius, crowding of carpals, and complete absence of digit rays of the thumb and index finger. Despite this anomaly, the subject could manage his daily life activities well. We present detailed clinical features and differential diagnosis of this rare limb malformation.

SUBMITTER: Malik S

PROVIDER: S-EPMC3872594 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child.

Malik Sajid S Afzal Muhammad M

Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences 20130901 9

Ulnar hypoplasia is a rare longitudinal limb deficiency in which the ulna shows various degrees of deficiency. The condition is normally associated with radial defects, and in severe cases there is a reduction of postaxial/ulnar digits. Ulnar deficiency is an integral part of several syndromic malformations like Weyer's oligodactyly syndrome, limb/pelvis hypoplasia/aplasia syndrome, and ulnar-mammary syndrome. Here, we report an isolated unilateral ulnar deficiency in a boy who was a product of ...[more]

PMID: 24381628

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Project description:Purpose In this literature review, functional outcomes such as Disability of Arm, Shoulder and Hand (DASH) score and the visual analog scale (VAS) of pain along with clinical outcomes such as range of movement and grip strength of treated distal radius fractures (DRF) accompanied with ulnar styloid fractures (USF) will be compared with those with isolated DRF. Materials and Methods We analyzed articles from MEDLINE, Embase, and CINAHL that met our predetermined inclusion and exclusion criteria as per the Preferred Reporting Items for Systematic Reviews and Meta-analysis statements. This resulted in the identification of 464 articles with 18 potentially eligible studies of which 6 were included at the full-text screening stage. The primary outcomes were wrist pain, range of motion, functional outcome and satisfaction, such as VAS, and the DASH questionnaire along with radiological assessment and incidence of complications. Results These studies involved 796 participants with DRF and 806 wrists with DRF; 444 (55%) of DRF had an associated USF. Three studies did not report any statistically significant difference in DASH scores between the DRF patients with or without USF. Two studies reported worse DASH scores in the group with associated USF. Wrist pain was reported to be statistically significantly worse in patients with associated USF in two studies. Grip strength did not exhibit a statistically significant difference in any groups in four studies. On assessing the range of motion of the wrist and forearm, only one study reported a statistically significant difference in flexion at 2 years follow-up, with less flexion in patients with USF. Conclusion This review suggests that there is no significant correlation between a USF and the functional and clinical outcomes of DRF treatment, albeit wrist pain and less flexion were reported in some studies to be associated with USF. There is a need for more robust evidence from large randomized controlled trials to specifically look at the effects of fixation versus nonfixation of USF on DRF, or large prospective cohort studies assessing DRF with and without USF, with a minimum of 12 months follow-up. Level of Evidence Level II-therapeutic.

Dataset Information

Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child.

Publications

Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child.

Similar Datasets

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