Membranous Cranial Ossification, Delayed

Last update 01 Nov 2024

Basic Info

Synonyms

Delayed membranous cranial ossification, Delayed membranous cranial ossification (disorder), Gonzales-del Angel syndrome

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Introduction

Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.

100 Clinical Results associated with Membranous Cranial Ossification, Delayed

100 Translational Medicine associated with Membranous Cranial Ossification, Delayed

0 Patents (Medical) associated with Membranous Cranial Ossification, Delayed

Literatures (Medical) associated with Membranous Cranial Ossification, Delayed

01 May 2024·JSES International

Osteochondritis dissecans of the elbow: recent evolution of pathogenesis, imaging, and treatment modalities

Review

Author: Takahara, Masatoshi

BackgroundThe etiology and pathogenesis of osteochondritis dissecans (OCDs) lesions remain controversial.MethodsThis review presents the recent evolution about the healing, imaging, pathogenesis, and how to treat OCD of the capitellum in overhead athletes.ResultsCompressive and shear forces to the growing capitellum can cause subchondral separation, leading to OCD, composed of 3 layers: articular fragment, gap, and underlying bone. Subchondral separation can cause ossification arrest (stage IA), followed by cartilage degeneration (stage IB) or delayed ossification (stage IIA), occasionally leading to osteonecrosis (stage IIB) in the articular fragment. Articular cartilage fracture and gap reseparation make the articular fragment unstable. The mean tilting angle of capitellar OCD is 57.6 degrees in throwers. Anteroposterior radiography of the elbow at 45 degrees of flexion (APR45) can increase the diagnostic reliability, showing OCD healing stages, as follows: I) radiolucency, II) delayed ossification, and III) union. Coronal computed tomography and magnetic resonance imaging with an appropriate tilting angle can also increase the reliability. MRI is most useful to show the instability, although it occasionally underestimates. Sonography contributes to detection of early OCD in adolescent throwers on the field. OCD lesions in the central aspect of the capitellum can be more unstable and may not heal. Cast immobilization has a positive effect on healing for stable lesions. Arthroscopic removal provides early return to sports, although a large osteochondral defect is associated with a poor prognosis. Fragment fixation, osteochondral autograft transplantation, and their hybrid technique have provided better results.DiscussionFurther studies are needed to prevent problematic complications of capitellar OCD, such as osteoarthritis and chondrolysis.

01 Jan 2024·Open Veterinary Journal

The adverse side effects of prenatal and postnatal rats' exposure to silver nanoparticles Induced toxicity

Article

Author: Elhadidy, Mona ; Al-Jazzar, Ahmad ; Jazzar, Ahmad ; Elalfy, Mahmoud ; Darwish, Wageh ; Al-Haid, Sultan ; Hereba, AbdelRahman ; Haid, Sultan ; Al-Hizab, Fahad A ; Abouelmagd, Mamdouh ; Darwish, Wageh Sobhy ; Alsyaed, Eman ; Hizab, Fahad

Background: Silver nanotechnology is widely applied in industry and medicine, with an increased likelihood of environmental and food contamination. Aim: This study aimed to explore the adverse effects of orally administering silver nanoparticles (AgNPs) to pregnant or lactating female rats on adults and the development of their offspring. Methods: Forty female albino rats were used to assess the immediate impacts of AgNPs in two separate experiments. The experimental group received 1 mL of AgNPs, dissolved in deionized water, at doses of 0, 50, and 100 mg/kg of body weight from the 6th to the 15th day of gestation in pregnant albino rats. After a 20-day gestation period, euthanasia was performed on the female rats, followed by a gross examination post-dissection. Results: The feti were preserved in ethyl alcohol and Poin's solution for the identification of skeletal and visceral malformations. It was noticed that feti of dams that received AgNPs showed teratogenicities such as delayed ossification and deletion of bones or ribs. Notably, dams showed necrosis and satellitosis with evidence of behavioral alteration. While rats’ pups showed only brain edema and no behavioral changes. Conclusion: AgNPs at a dose of 50 or 100 mg/kg induced teratogenic effect in terms of delayed ossification, abnormal limb formation, and brain edema in rat pups, however induced necrosis and satellitosis in dam rats. Hence, greater emphasis should be placed on preventing exposure to Ag-NPs, especially among pregnant females.

01 Jan 2024·Molecular Genetics & Genomic Medicine

A new phenotype of EVEN‐PLUS syndrome in a Chinese family and literature review

Review

Author: Li, Huanhuan ; Liu, Ming ; Ren, Shuhong ; Ding, Changhong

AbstractBackgroundEpiphyseal, Vertebral, Ear, and Nose (EVEN)‐PLUS syndrome is a rare condition characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose, plus other associated findings, due to pathogenic variants in the HSPA9 gene. Due to the sparse number of patients, the clinical phenotypic spectrum is not clear.MethodsWe report two patients with pathogenic HSPA9 variants from a Chinese family. Besides the core clinical features of EVEN‐PLUS syndrome, the two cases had seizures, developmental delay, and basal ganglia lesions in cerebral MRI. We also reviewed the previously published reports of patients with biallelic pathogenic HSPA9 variants.ResultsTogether with the presented cases, 12 cases (9 females) were identified from 6 relevant research items for analysis. All patients had synophrys or arched eyebrows, hypoplastic or dysplastic ears, hypoplastic nasal bone, and dysplastic femoral head. Other specific craniofacial features (such as triangular nares), abnormal skeletal presentations (such as bifid femur, dysplastic epiphyses at the knee, dysplastic acetabula, delayed ossification, short stature, vertebral clefting, scoliosis, and dislocated patellae), congenital heart defects, and renal alterations are common clinical features. Two patients had seizures and basal ganglia lesions in cerebral MRI. Infrequent features, such as aplasia cutis, short thorax and sternum, and widely spaced nipples, are also observed in the syndrome. Thirteen variants associated with EVEN‐PLUS syndrome have been reported.ConclusionsHSPA9 gene mutations should be suspected in all cases with specific craniofacial features, abnormal skeletal presentations, congenital heart defects, and renal alterations. Seizures and basal ganglia lesions are a new phenotype of EVEN‐PLUS syndrome.

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Membranous Cranial Ossification, Delayed

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