Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II

Rabah M Shawky,Radwa Gamal,Shaimaa Abdelsattar Mohammad

doi:10.1016/j.ejmhg.2017.04.002

Abstract

We report a 4month old male, 4th in order of birth of healthy consanguineous Egyptian parents with typical characteristics of microcephalic osteodysplastic primordial dwarfism most probably belongs to type I (MOPD I). The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists, groove between thumb and palm of hand, arachnodactyly, flexion contractures of elbow and knee. He also had thin dry skin with marked decreased subcutaneous fat and prominent superficial veins over chest and abdomen and mild hypertrichosis over lower back and buttocks. However, the patient had severe anemia and MRI brain findings revealed global hypovolemic brain changes in the form of dilated ventricles and widened cortical sulci, multiple old vascular insults and aneurismal dilatation of right internal carotid artery (ICA) which are consistent with MOPD II.

Highlights

Primordial dwarfism is a very rare form of dwarfism beginning in early stages of intrauterine life and results in a smaller body size in all stages of life [1]
We report a case with the typical features of microcephalic osteodysplastic primordial dwarfism type I who had in addition
most probably belongs to type I (MOPD I) and III were originally described as two separate entities on the basis of radiological criteria mainly in long bones and pelvic bones, later reports confirmed that the two forms represent different expression of the same syndrome

Summary

Introduction

Primordial dwarfism is a very rare form of dwarfism beginning in early stages of intrauterine life and results in a smaller body size in all stages of life [1]. Primordial dwarfism is a very heterogeneous group of disorders and it has been classified into three main types: Seckel syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III and type II [2]. Microcephalic osteodysplastic primordial dwarfism (MOPD) is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency, microcephaly and a similar phenotype to Seckel syndrome. This condition was initially described by Majewski et al, [3] who characterized three distinct syndromes which he named microcephalic osteodysplastic primordial dwarfism types I, II and III. Some unreported features most probably belongs to MOPD II after taking consent of the parents

Case report

Discussion