Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a rare autosomal recessive disorder that presents as a myriad of skeletal abnormalities collectively termed as osteodysplasia, which have their onset during intrauterine life with the fetus exhibiting intrauterine growth restriction. Affected individuals also tend to have a very small head size that is more than three standard deviations (SD) below the mean for a population termed microcephalic. The growth problems progress postnatally, causing stunted growth or short stature. In this report, we present the case of two siblings: a 15-year-old unvaccinated female weighing 8 kg (case one), and a seven-year-old unvaccinated female weighing 6 kg (case two), who presented to the Department of Pediatrics, Unit 2 at the Civil Hospital in Karachi, Pakistan, complaining of short stature since birth.
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| http://dx.doi.org/10.7759/cureus.10258 | DOI Listing |
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Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
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Background: Impaired mitochondrial protein import machinery leads to phenotypically heterogeneous diseases. Here, we report a recurrent homozygous missense variant in the gene that encodes the translocase of outer mitochondrial membrane 7 (TOMM7) in nine patients with microcephaly, short stature, facial dysmorphia, atrophic macular scarring, and moyamoya disease from seven unrelated families.
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A rare type of autosomal recessive skeletal disorder, known as microcephalic osteodysplastic primordial dwarfism (MOPD) type II, causes a wide range of clinical abnormalities, including skeletal dysplasia, microcephaly, abnormal skin pigmentation, insulin resistance, typical facial features, and severe tooth deformities. Given the diverse manifestations of MOPD disorders and the overlapping clinical characteristics among primordial dwarfism (PD) subtypes, mutation analysis is crucial for accurate diagnosis and confirmation of MOPD II. In this study, whole-exome sequencing (WES) and GAP-PCR were employed to identify relevant genetic variants in three patients suspected of having MOPD.
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