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[Newborn with phocomelia and thrombocytopenia. Case report].
Z Geburtshilfe Neonatol. 2002 Jul-Aug; 206(4):161-3.ZG

Abstract

Associated malformations and symptoms may be decisive in the differential diagnosis of neonatal phocomelia. We report on a neonate with phocomelia, petechiae and thrombocytopenia. This constellation is typical for the phocomelia-thrombocytopenia-syndrome, a variant of the thrombocytopenia-absent radius-(TAR) syndrome. During the neonatal period platelet transfusions were necessary. Relevant bleeding and development delays were not evident until the age of seven months. Cardinal symptoms of the TAR syndrome are bilaterally absent radius and neonatal thrombocytopenia. The patient presented with phocomelia of the upper extremities which occurs in only 5 - 10 % of the patients with TAR syndrome. Further abnormalities include additional bone and joint disorders and haematopoietic problems, such as thrombocytopenia. Bleeding episodes mainly occur in the first year of life, hence platelet transfusions may be necessary during this period. A new experimental approach is the Interleukin-6-mediated stimulation of thrombopoiesis. Usually platelet counts reach normal values in adults. The main problem remains a satisfactory management of various limb defects.

Authors+Show Affiliations

Universitätsklinikum Tübingen, Klinik für Kinderheilkunde und Jugendmedizin, Abteilung IV, Neonatologie, Germany.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

12198594

Citation

Maas, C, et al. "[Newborn With Phocomelia and Thrombocytopenia. Case Report]." Zeitschrift Fur Geburtshilfe Und Neonatologie, vol. 206, no. 4, 2002, pp. 161-3.
Maas C, Arand J, Orlikowsky T, et al. [Newborn with phocomelia and thrombocytopenia. Case report]. Z Geburtshilfe Neonatol. 2002;206(4):161-3.
Maas, C., Arand, J., Orlikowsky, T., & Goelz, R. (2002). [Newborn with phocomelia and thrombocytopenia. Case report]. Zeitschrift Fur Geburtshilfe Und Neonatologie, 206(4), 161-3.
Maas C, et al. [Newborn With Phocomelia and Thrombocytopenia. Case Report]. Z Geburtshilfe Neonatol. 2002 Jul-Aug;206(4):161-3. PubMed PMID: 12198594.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Newborn with phocomelia and thrombocytopenia. Case report]. AU - Maas,C, AU - Arand,J, AU - Orlikowsky,Th, AU - Goelz,R, PY - 2002/8/29/pubmed PY - 2002/12/20/medline PY - 2002/8/29/entrez SP - 161 EP - 3 JF - Zeitschrift fur Geburtshilfe und Neonatologie JO - Z Geburtshilfe Neonatol VL - 206 IS - 4 N2 - Associated malformations and symptoms may be decisive in the differential diagnosis of neonatal phocomelia. We report on a neonate with phocomelia, petechiae and thrombocytopenia. This constellation is typical for the phocomelia-thrombocytopenia-syndrome, a variant of the thrombocytopenia-absent radius-(TAR) syndrome. During the neonatal period platelet transfusions were necessary. Relevant bleeding and development delays were not evident until the age of seven months. Cardinal symptoms of the TAR syndrome are bilaterally absent radius and neonatal thrombocytopenia. The patient presented with phocomelia of the upper extremities which occurs in only 5 - 10 % of the patients with TAR syndrome. Further abnormalities include additional bone and joint disorders and haematopoietic problems, such as thrombocytopenia. Bleeding episodes mainly occur in the first year of life, hence platelet transfusions may be necessary during this period. A new experimental approach is the Interleukin-6-mediated stimulation of thrombopoiesis. Usually platelet counts reach normal values in adults. The main problem remains a satisfactory management of various limb defects. SN - 0948-2393 UR - https://www.unboundmedicine.com/medline/citation/12198594/[Newborn_with_phocomelia_and_thrombocytopenia__Case_report]_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2002-33672 DB - PRIME DP - Unbound Medicine ER -