Surgical Management of Facial Features of Robinow Syndrome: A Case Report

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Surgical Management of Facial Features of Robinow Syndrome: A Case Report

BACKGROUND Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage gr...

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Robinow Syndrome: A Rare Case Report and Review of Literature

Robinow syndrome is an extremely rare genetic disorder. Short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral defects comprise its distinct features. This disorder exists in dominant and recessive patterns. Patients with the dominant pattern exhibit moderate symptoms. More physical characteristics and skeletal abnormalities characterize the recessi...

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A case report on autosomal recessive Robinow syndrome.

BACKGROUND Robinow syndrome or "foetal face" syndrome is an extremely rare genetic disorder with characteristic skeletal and orofacial findings. The purpose of the present case report is to describe the clinical findings of an 8 year-old female patient with autosomal recessive Robinow syndrome. CASE REPORT The patient was born to consanguineous parents and had anomalies typical of the recessi...

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Robinow Syndrome: a Rare Case Report from a Tertiary Care Hospital in Eastern India

Background Robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. Two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. Case Report We describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...

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ژورنال

عنوان ژورنال: Open Access Macedonian Journal of Medical Sciences

سال: 2018

ISSN: 1857-9655

DOI: 10.3889/oamjms.2018.129