Newborn with Arm Deformity
Am Fam Physician. 2017 Feb 15;95(4):255-256.
A 25-year-old Hispanic woman delivered at 40 weeks' gestation by spontaneous vaginal delivery. Prenatal care was started late at 28 weeks' gestation, and routine laboratory screening showed no abnormalities. Prenatal ultrasonography at 29 weeks' gestation showed a horseshoe, pelvic kidney in the mother. She had no history of infections or recent travel and was not taking any medications other than prenatal supplements. Her two prior deliveries were unremarkable.
At birth, the newborn appeared healthy, and had a lusty cry and no visible craniofacial or cutaneous abnormalities. Cardiovascular and pulmonary assessments were normal. Examination revealed bilateral wrist flexion and shortened forearms (Figures 1 and 2). The humerus was palpable in the upper arm bilaterally. The newborn had normal thumb development and handgrip bilaterally. He had all 10 fingers, with webbing noted on both hands. Skeletal and joint examination was otherwise unremarkable, including normal hip rotation and lower extremity length.
Birth weight was 6 lb, 9 oz (2,975 g). Apgar score was 9 at one and five minutes. Pulse and respiratory rate were normal. Initial laboratory results showed a leukocyte count of 24.8 per μL (0.02 × 109 per L), normal range: 9,000 to 30,000 per μL (9 to 30 × 109 per L); hematocrit of 42.8%, normal range: 42.0% to 60.0%; and platelet count of 146 × 103 per μL (146 × 109 per L), normal range: 150 to 400 × 103 per μL (150 to 400 × 109 per L).
Based on the patient's history and the newborn's physical examination findings, which one of the following is the most likely diagnosis?
A. Fanconi anemia.
B. Holt-Oram syndrome.
C. Roberts syndrome.
D. Thrombocytopenia–absent radius syndrome.
REFERENCESshow all references
1. Toriello HV. Thrombocytopenia–absent radius syndrome. Semin Thromb Hemost. 2011;37(6):707–712....
2. de Ybarrondo L, Barratt MS. Thrombocytopenia absent radius syndrome. Pediatric Rev. 2011;32(9):399–400.
3. Goswami M, Bhushan U, Goswami M. Dental perspective of rare disease of fanconi anemia: case report with review. Clin Med Insights Case Rep. 2016;9:25–30.
4. Mace J, Reddy S, Mohil R. Atypical carpal tunnel syndrome in a Holt oram patient: a case report and literature review. Open Orthop J. 2014;8:462–465.
5. Van Den Berg DJ, Francke U. Roberts syndrome: a review of 100 cases and a new rating system for severity. Am J Med Genet. 1993;47(7):1104–1123.
6. Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis. 2011;6:56.
This series is coordinated by John E. Delzell, Jr., MD, MSPH, Assistant Medical Editor.
A collection of Photo Quiz published in AFP is available at http://www.aafp.org/afp/photoquiz.
Previously published Photo Quizzes are now featured in a mobile app. Get more information at http://www.aafp.org/afp/apps.
The editors of AFP welcome submissions for Photo Quiz. Guidelines for preparing and submitting a Photo Quiz manuscript can be found in the Authors' Guide at http://www.aafp.org/afp/photoquizinfo. To be considered for publication, submissions must meet these guidelines. E-mail submissions to firstname.lastname@example.org.
Copyright © 2017 by the American Academy of Family Physicians.
This content is owned by the AAFP. A person viewing it online may make one printout of the material and may use that printout only for his or her personal, non-commercial reference. This material may not otherwise be downloaded, copied, printed, stored, transmitted or reproduced in any medium, whether now known or later invented, except as authorized in writing by the AAFP. Contact email@example.com for copyright questions and/or permission requests.
Want to use this article elsewhere? Get Permissions