A case of split hand/foot malformation with tibial hypoplasia: Tibial hipoplazinin eşlik ettiği yarık el/ayak malformasyonu olgusu

Nuriye Aslı Melekoğlu; Zatıgül Şafak Taviloğlu; Ercan Sivaslı

doi:10.5455/GMJ-30-153703

Authors

Nuriye Aslı Melekoğlu Division of Neonatology, Department of Pediatrics, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey
Zatıgül Şafak Taviloğlu Division of Neonatology, Department of Pediatrics, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey
Ercan Sivaslı Division of Neonatology, Department of Pediatrics, Faculty of Medicine, University of Gaziantep, Gaziantep, Turkey

DOI:

https://doi.org/10.5455/GMJ-30-153703

Keywords:

Ectrodactyly, split hand/foot malformation, tibial aplasia/hypoplasia

Abstract

Split hand/foot malformation (SHFM), also known as ectrodactyly, is a congenital limb malformation characterized by a defect of the central rays of hands and/or feet due to the failure of ectodermal ridge activity. Split hand/foot malformation with long bone deficiency (SHFLD, OMIM 119100) is a rare condition and clinical manifestations are highly variable. SHFLD incidence is 1 in 1.000.000 live births. Here we report a premature newborn born at 33 gestational weeks with limb anomalies and diagnosed as split hand/foot malformation with tibial hypoplasia. With this case report, the importance of evaluating of patients with SHFLD for additional anomalies, estimating the appropriate time for limb salvage surgeries, achieving the best functional result with physiotherapy with multidisciplinary assessment was emphasized.

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