Clinical Findings and Dental Manifestations Associated With Microcephalic Osteodysplastic Primordial Dwarfism Type II: A Case Report

نویسندگان

چکیده

Background: Microcephalic Osteodysplastic Primordial Dwarfism type 2 (MOPD II) is a rare untreatable genetic disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, bird-headed face (receding forehead chin, beaklike nose, prominent eyes), skeletal abnormalities, abnormal dentition, hair skin changes, high-pitched nasal voice, an increased risk for insulin resistance cerebrovascular disease. MOPDII caused mutations in the pericentrin gene inherited autosomal recessive manner. This study aims to report MOPD II child patient. Case Presentation: A seven-year-old girl genetically diagnosed with has been presented this case report. Clinical, radiological, laboratory findings emphasis on oral features have reported, her dental problems management also described. Conclusions: patients shorter life expectancy. The main health complications which need regular care include vascular changes of central nervous system, diabetes mellitus, renal problems, blood pressure, cardiac pathologies, hematologic profile. high caries because they consume soft cariogenic foods due microdontia, oligodontia, incompetent masticatory system. On other hand, treatment such can be very challenging. cases their families should aware importance hygiene routine follow-ups.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

PURPOSE OF THE REVIEW This review will provide an overview of the microcephalic primordial dwarfism (MPD) class of disorders and provide the reader comprehensive clinical review with suggested care guidelines for patients with microcephalic osteodysplastic primordial dwarfism, type II (MOPDII). RECENT FINDINGS Over the last 15 years, significant strides have been made in the diagnosis, natura...

متن کامل

Majewski osteodysplastic primordial dwarfism type II: clinical findings and dental management of a child patient

Majewski osteodysplastic primordial dwarfism type II (MOPD II) is an unusual autosomal recessive inherited form of primordial dwarfism, which is characterized by a small head diameter at birth, but which also progresses to severe microcephaly, progressive bony dysplasia, and characteristic facies and personality. This report presents a case of a five-year-old girl with MOPD II syndrome. The pat...

متن کامل

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

The clinical and radiological findings in a pair of sibs with microcephalic osteodysplastic primordial dwarfism (MOPD) are described, a boy who survived for 5 1/2 years and his more severely affected younger sister, who died at the age of 6 months. Neuropathological studies in this girl showed marked micrencephaly with severely hypoplastic, poorly gyrated frontal lobes and absent corpus callosu...

متن کامل

Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.

We describe a male infant with phenotypic and radiological features of microcephalic osteodysplastic primordial dwarfism type I/III. He showed severe osteoporosis and biochemical derangement owing to renal tubular leakage, which has not previously been reported in this condition. He died aged 5 months.

متن کامل

A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report

INTRODUCTION Microcephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100 cm, a po...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Journal of pediatrics review

سال: 2022

ISSN: ['2322-4401', '2322-4398']

DOI: https://doi.org/10.32598/jpr.10.4.1051.2