A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency.

Mushtaq Ahmed,Saad Nasir,Syeda Shaheera Riaz Hashmi,Ayesha Saleem,Zia Iqbal

doi:10.7759/cureus.7371

Abstract

Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare inherited autosomal disorder with characteristic skeletal deformities striking on radiological imaging, which includes metaphyseal cupping and fraying. Physical examination reveals short stature in early childhood, frontoparietal bossing, rachitic rosary, genu varum and valgum, and coxa vara usually. We believe that the constellation of clinical and radiographic findings of MDSC might look similar to vitamin D resistant rickets; hence, genetic analysis is needed to overcome diagnostic challenges faced by physicians to avoid unnecessary vitamin D supplementation in individuals. We report the first case of MDSC with a coexisting factor VII deficiency in an eight-year-old boy.

Highlights

Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare autosomal dominant condition caused by a mutation in the COL10A1 gene [1]
We present a case of an eight-year-old boy with MDSC and factor VII deficiency
There has been one similar case study reported by Khorasani and Vakili in which MDSC presented with another inherited disorder, which was congenital adrenal hyperplasia; our case was different because there was a co-occurrence of factor VII deficiency, unlike any other reported cases in the literature [2]

Summary

Introduction

Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare autosomal dominant condition caused by a mutation in the COL10A1 gene [1]. It manifests in early childhood and results in a wide range of skeletal deformities. We present a case of an eight-year-old boy with MDSC and factor VII deficiency. The ear, nose, and throat (ENT) on-call team was taken on-board for the likely need for packing but did not require any further interventions His routine laboratory findings were as follows: hemoglobin 4.8 mg/dL (normal range: 11-13 g/dL) and mean corpuscular volume 60 fL (normal range: 75-90 fL); total leukocyte count, blood urea nitrogen, creatinine, and electrolytes were in the normal reference range. The patient was advised to frequent follow-ups to assess the likely need for supportive care in the future

Discussion

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Disclosures