Isolated anomalies of the fetal hand - two case reports and a review of the literature

Vol. 57 No. 4, 2016


Claudiu Marginean, Claudiu Molnar-Varlam, Lorena Elena Melit, Maria Oana Marginean, Vladut Stefan Bogdan Sasaran, Daniel Muresan

Fetal ultrasonography remains the main diagnostic tool for the assessment of different malformation. Fetal limb anomalies can be either isolated, either associated with other malformations in context of different syndromes. We present two cases of isolated fetal limb anomalies involving the distal part of the upper limb, namely the fetal hand consisting in phalangeal aplasia detected through routine ultrasound fetal examination. We could not identify the etiology in any of the cases, but in one of them, we discovered a bilateral thumb anomaly of the mother s hand. Both fetuses were aborted spontaneously without any relation to the detected anomaly. The upper limb anomaly was confirmed by the clinical, radiological and anatomopathological examinations of the aborted fetuses. The early detection of fetal limb anomalies provides the opportunity of choosing the best therapeutic management. Genetic counseling must also be taken under consideration for further pregnancies.

Corresponding author: Maria Oana Marginean, Student; e-mail:

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