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Poland's syndrome is a rare congenital malformation that is characterized by a congenital defect of the pectoralis major. It is associated with various ipsilateral upper extremity anomalies and homolateral breast hypoplasia. There have been reports of Poland's syndrome being associated with different malignancies. Here, we report two cases of Poland's syndrome associated with breast cancer (BC) and review the literature. To date, 21 cases (including our two cases) of Poland's syndrome associated with BC have been reported. The clinical characteristics of the disease are analyzed in this report. [ABSTRACT FROM AUTHOR]

Holt--Oram syndrome (HOS) (OMIM#142900) is a rare condition with upper extremity malformations as well as structural and conduction cardiac anomalies. There are sparse reports in the literature documenting malignancy in association with HOS. We report a pediatric patient clinically diagnosed with HOS (missing thumbs bilaterally, atrial septal defect, ventricular septal defect, and first-degree heart block), who also developed B precursor acute lymphoblastic leukemia. During induction of chemotherapy with steroids, she developed profound bradycardia without clinical symptoms. The bradycardia resolved without intervention, but this case highlights the challenges of managing chemotherapy side effects in a patient with congenital heart disease. A literature review pertinent to the associated findings in the case is also presented. [ABSTRACT FROM AUTHOR]

Background: The aim was to assess the validity and reliability of the Persian version of shortened disabilities of the arm, shoulder, and hand (Quick-DASH) questionnaire in patients with upper extremity conditions. Methods: We administered the Persian version of Quick-DASH to 202 patients with upper extremity conditions, of which 71 patients randomly returned after 3 days to respond to the questionnaire for the 2nd time. In order to test the construct validity of the questionnaire, patients responded to the Michigan Hand Outcome Questionnaire (MHOQ) and Short Form 36 Health Survey (SF-36) as well. Internal consistency was tested using the Cronbach's alpha, and test-retest reliability was measured using intra-class correlation coefficient (ICC). Results: Cronbach's alpha was 0.90. ICC was 0.89. Convergent validity was confirmed, as the Spearman correlation between the Quick-DASH and MHOQ was 0.67 and ranged from 0.24 to 0.56 between the subscales of the SF-36 and Quick-DASH. Conclusions: Observation of excellent internal consistency, good to excellent test-retest reliability, and moderate to strong construct validity confirms the validity and reliability of the Persian version of Quick-DASH for evaluating the magnitude and level of disability in upper extremity conditions. [ABSTRACT FROM AUTHOR]

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature. [ABSTRACT FROM AUTHOR]

Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 "protein-producing" mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac septation defects and pre-axial radial ray abnormalities. We are reporting a case of HOS with aortic atresia which is a rare association. [ABSTRACT FROM AUTHOR]

Syphilis in pregnancy still remains a challenge despite the availability of adequate diagnostic tests for serological screening and penicillin therapy. We report a case of 2 month old female infant who presented with runny nose, papulosquamous lesions over both palms and soles and perianal erosions since 1 month after birth. Cutaneous examination revealed moist eroded areas in the perianal region and fine scaly lesions over palms and soles. Radiograph of both upper limbs and limbs revealed early periosteal changes in lower end of humerus and lower end of tibia. Diagnosis of early pre-natal syphilis was confirmed by Child's Serum Rapid Plasma Reagin Antibody test [S.RPR] being positive with 1:64 dilution while that of mother was 1:8. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 41-year-old female presented with complaints of neck pain associated with a tingling sensation and progressive weakness in right upper limb and bowel and bladder dysfunction. Topics discussed include normal functioning of higher mental functions and cranial nerve, diagnosis of neurofibroma, and intracranial metastasis from primary spinal Primitive neurectodermal tumors (PNETs).

A rare case of thoracoschisis, diaphragmatic and supraumbilical abdominal wall defect with right upper limb agenesis in a neonate is reported. [ABSTRACT FROM AUTHOR]