Partial distal aphalangia, duplication of metatarsal IV, microcephaly, and borderline intelligence: a fourth patient with parental consanguinity and additional feature of massive cerebral thrombosis Yasemin Ozsurekci a , Ayca Komurluoglu b , Selin Aytac c , Kader K. Oguz d , Eda Utine e and Mehmet Ceyhan a Clinical Dysmorphology 2015, 24:29–33 a Pediatric Infectious Diseases Unit, b Department of Pediatrics, c Pediatric Hematology Unit, d Department of Radiology and e Pediatric Genetics Unit, Hacettepe University Faculty of Medicine, Ankara, Turkey Correspondence to Yasemin Ozsurekci, MD, Pediatric Infectious Diseases Unit, Hacettepe University Faculty of Medicine, Sıhhıye, Ankara 06100, Turkey Tel: + 90 312 3051166; fax: + 90 312 3108241; e-mails: yas.oguz99@yahoo.com and yasemin.ozsurekci@gmail.com Received 20 December 2013 Accepted 3 September 2014 List of key features Partial distal aphalangia Duplication of metatarsal IV Microcephaly Borderline intelligence Introduction The combination of partial distal aphalangia, duplication of metatarsal IV, microcephaly and borderline intelligence (OMIM %600384) has been reported previously in three families (Martínez-Frías et al., 1995; Di Rocco, 2002; Utine et al., 2009). The cardinal features of the condition comprise these four findings and are additionally accom- panied by oligodactyly, nail and digit hypoplasia, syn- dactyly, and clinodactyly. Individual patients have been also reported to have short stature, scoliosis, megaureters, and hemorrhagic disease of the newborn as a complication of neonatal hepatitis. Fig. 1 Posteroanterior radiograph of the hands showing hypoplastic distal phalanges of fingers two to five. The fifth digits were most severely affected, and no distal phalanx was present on the left (a, b). The hands of the patient (c). Short case report 29 0962-8827 © 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins DOI: 10.1097/MCD.0000000000000057 Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited.