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Circumferential skin folds and multiple anomalies confirmation of a distinct autosomal recessive Michelin tire baby syndrome

Circumferential skin folds and multiple anomalies confirmation of a distinct autosomal recessive... Short case report 87 Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome a a a a Hakan Ulucan , Erkan Koparir , Asuman Koparir , Ender Karaca , c a a a Ramazan Emre , Alper Gezdirici , Elif Yosunkaya , Mehmet Seven , a b Mustafa Ozen and Adnan Yuksel Clinical Dysmorphology 2013, 22:87–90 Correspondence to Hakan Ulucan MD, PhD, Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey Department of Medical Genetics, Cerrahpasa Medical School of Istanbul Tel: + 90 212 414 30 00 x22 996; fax: + 90 212 414 31 84; University, Department of Pediatrics, Medical School of Bezmi Alem University, e-mail: [email protected] Istanbul and Department of Medical Genetics, Medical School of Osmangazi University, Eskisehir, Turkey Received 17 August 2012 Accepted 20 November 2012 List of key features She was referred to our department at the age 18 months Michelin tire baby syndrome for evaluation because of a distinctive dysmorphic facial Circumferential skin creases appearance as well as unusual creases. She was noted to Multiple congenital anomaly have microcephaly (head circumference was 43 cm, <third percentile). In addition, she had sparse hair, an http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Dysmorphology Wolters Kluwer Health

Circumferential skin folds and multiple anomalies confirmation of a distinct autosomal recessive Michelin tire baby syndrome

Yuksel, Adnan
Clinical Dysmorphology , Volume 22 (2) – Apr 1, 2013
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References (12)

Copyright
© 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins
ISSN
0962-8827
eISSN
1473-5717
DOI
10.1097/MCD.0b013e32835cd5df
pmid
23324645
Publisher site
See Article on Publisher Site

Abstract

Short case report 87 Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome a a a a Hakan Ulucan , Erkan Koparir , Asuman Koparir , Ender Karaca , c a a a Ramazan Emre , Alper Gezdirici , Elif Yosunkaya , Mehmet Seven , a b Mustafa Ozen and Adnan Yuksel Clinical Dysmorphology 2013, 22:87–90 Correspondence to Hakan Ulucan MD, PhD, Department of Medical Genetics, Cerrahpasa Medical School of Istanbul University, Istanbul 34098, Turkey Department of Medical Genetics, Cerrahpasa Medical School of Istanbul Tel: + 90 212 414 30 00 x22 996; fax: + 90 212 414 31 84; University, Department of Pediatrics, Medical School of Bezmi Alem University, e-mail: [email protected] Istanbul and Department of Medical Genetics, Medical School of Osmangazi University, Eskisehir, Turkey Received 17 August 2012 Accepted 20 November 2012 List of key features She was referred to our department at the age 18 months Michelin tire baby syndrome for evaluation because of a distinctive dysmorphic facial Circumferential skin creases appearance as well as unusual creases. She was noted to Multiple congenital anomaly have microcephaly (head circumference was 43 cm, <third percentile). In addition, she had sparse hair, an

Journal

Clinical Dysmorphology – Wolters Kluwer Health

Published: Apr 1, 2013

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