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Cleidocranial dysplasia

Collapse Section. Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles (cleido- in. Cleidocranial Dysplasia (CCD) Cleidocranial dysplasia is a rare genetic condition that affects teeth and bones, such as the skull, face, spine, collarbones and legs. The bones in people with CCD might be formed differently or might be more fragile than normal, and certain bones such as collarbones may be absent From Wikipedia, the free encyclopedia Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together Cleidocranial dysplasia (CCD) is an autosomal dominant disorder resulting in the skeletal and dental abnormalities due to the disturbance in ossification of the bones. Clavicle is the most commonly affected bone. The prevalence of CCD is one in millions of live births

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder caused by mutations in the Runx2 gene. The CCD is characterized by frontal bossing, a patent anterior fontanelle, presence of Wormian bones, midface hypoplasia, multiple dental abnormalities, clavicular hypoplasia or aplasia, skelet Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes Cleidocranial dysplasia is a congenital birth defect caused by mutations to the RUNX2 gene. 1  This gene regulates the development and activity of bones, cartilage, and teeth. In the earliest stages of the body's development, cartilage—a tough but malleable tissue—makes up a large portion of the skeleton What is cleidocranial dysplasia Cleidocranial dysplasia also known as cleidocranial dysostosis, Marie-Sainton syndrome or mutational dysostosis, is a genetic condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family Cleidocranial dysostosis (CCD), also known as cleidocranial dysplasia, is a rare skeletal dysplasia with predominantly membranous bone involvement, which carries an autosomal dominant inheritance 4. Clinical presentation large head, with large.

Cleidocranial dysplasia: MedlinePlus Genetic

Cleidocranial Dysplasia (CCD) Johns Hopkins Medicin

Cleidocranial dysostosis - Wikipedi

  1. Cleidocranial dysplasia (CCD), which is sometimes called cleidocranial dysostosis, is an extremely rare inherited condition caused by genetic mutations and primarily affects the bones and teeth. CCD has many distinctive physical features, as well as implications on dental health
  2. Cleidocranial dysplasia is a rare disorder that affects the skeletal system. The development of the bones and the teeth are affected, although the degree to which they are affected is markedly.
  3. Die Kleidokraniale Dysplasie oder Kleidokraniale Dysostose, lateinisch Dysplasia cleidocranialis oder Dysostosis cleidocranialis, ist eine sehr seltene angeborene Erkrankung mit fehlenden oder unterentwickelten Schlüsselbeinen, weit offenen Fontanellen und Schädelnähten sowie Zahnveränderungen

Have you ever heard of Cleidocranial Dysplasia? No? Well, maybe that is due to the fact that this hereditary condition is very uncommon and only affects one. Abstract. Cleidocranial dysplasia is a generalized skeletal dysplasia affecting not only the clavicles but almost the entire skeletal system. It is characterized by aplasia or hypoplasia of the clavicles, enlarged calvaria with frontal bossing, multiple Wormian bones, delayed tooth eruption, supernumerary unerupted teeth, distal phalanges with abnormally pointed tufts, hypoplasia of the pelvis. Cleidocranial dysplasia is an autosomal dominant polymorphic skeletal disorder primarily affecting bones formed by intramembranous ossification with variable expressivities. Cleidocranial dysplasia results from mutation in the transcription factor Runx2/Cbfa1 located on.

Post Gad: CleidoCranial dysostosis

Cleidocranial dysplasia (CD) is a rare disorder that involves developmental abnormalities of bony structures. CD is characterized as an autosomal dominant skeletal dysplasia with a variety of clinical manifestations; most commonly supernumerary teeth, brachycephalic skull, short stature Cleidocranial dysplasia is a rare disorder of skeletal development that mainly promotes, among other malformations, inadequate development of clavicles and failure in cranial closure. In this affection, the role of neurosurgery in addressing cranial defects is rarely discussed. We conducted an extensive review of the literature using the PubMed database, giving a greater focus to publications. Cleidocranial dysplasia is a rare autosomal dominant hereditary skeletal disease (MIM number is 600211). A few of these cases were familial and most were sporadic. There was no significant difference in the incidence be-tween males and females, and the clinical incidence was 1:1000000 [1]. The main manifestations of CCD are sys-temic skeletal. Now cleidocranial dysplasia, or CCD, is a rare congenital disorder—meaning present since birth—and it's caused by a mutation in a gene on chromosome 6, located at 6p21, which means chromosome 6, the short arm, or P, region 2, band 1. The gene's called CBFA1 or RUNX2, so let's just go with RUNX2 A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Cleidocranial dysplasia recessive form. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry

Cleidocranial Dysplasia is a rare congenital disorder caused by an autosomal dominant mutation in the RUNX2/CBFA1 gene leading to abnormal intramembranous ossification. Patients present with proportionate dwarfism with the characteristic feature of hypoplastic or absent clavicles Cleidocranial Dysplasia. Cleidocranial dysplasia is a rare birth condition most notable for the lack of collarbones (or small collarbones- clavicles ). While this is recognizable, other findings include abnormalities of the teeth as well as delaying closing of the fontanelles (skull bone deficits). This is an autosomal dominant condition. Cleidocranial dysplasia (CCD) is a rare genetic disorder that affects the development of the bones, skull, and teeth.The bones in people with CCD might be formed differently or maybe more fragile than usual. In some cases, the collar bone may be absent cleidocranial dysplasia: , clidocranial dysostosis [MIM*119600] a developmental disorder characterized by absence or hypoplasia of clavicles, box-shaped cranium with open sutures, frontal bossing, sutural bones, ability to oppose shoulders, and missing teeth; autosomal dominant inheritance, caused by mutation in the transcription factor gene (.

Cleidocranial dysplasia 1. CLEIDOCRANIAL DYSPLASIA Maryam Arbab House Officer SBDC 2. DEFINITION It is a condition characterized by defective development of the cranial bones and by the complete or partial absence of the collar bones (clavicles) Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder caused by mutations in the Runx2 gene. The CCD is characterized by frontal bossing, a patent anterior fontanelle, presence of Wormian bones, midface hypoplasia, multiple dental abnormalities, clavicular hypoplasia or aplasia, skeletal abnormalities, and short stature CLEIDOCRANIAL DYSPLASIA. Pathology: Delayed ossification of midline structures. Autosomal dominant disorder with high penetrance. Presentation: Mild shortened stature. Enlarged and brachycephalic head with wide sutures and delayed closure. High arched palate with poorly formed supernumerary teeth. Genu valgum and short fingers

Cleidocranial dysplasia does not affect the sufferer mentally or intellectually and, from this aspect, he/she is completely normal. The palate is narrow and occasionally high, and there is a marked degree of lateness in the development of the deciduous dentition, while eruption is generally normal Cleidocranial dysplasia, also called Cleidocranial dysostosis, is a hereditary congenital disorder characterized by clavicular hypoplasia oragenesis, narrowed thorax that allows approximation the shoulders in front of the chest, delayed closure of the cranial sutures and fontanelles,. Abstract. In this review, we aimed to depict the clinical, radiological, and genetic features of cleidocranial dysplasia (CCD) and to suggest management guidelines, based on our experience of 8 cases, with an emphasis given to dental complications. The most common craniofacial features of CCD that stand out are a patency of the anterior. File:Cleidocranial dysplasia.webm. Size of this JPG preview of this WEBM file: 800 × 449 pixels. Other resolutions: 320 × 180 pixels | 640 × 360 pixels | 1,024 × 575 pixels | 1,812 × 1,018 pixels. This is a file from the Wikimedia Commons. Information from its description page there is shown below The cleidocranial dysplasia, also known as Marie and Sainton Disease, Scheuthauer Marie-Sainton Syndrome and Mutational dysostosis (Shafer etal., 1979) is a rare disease which can occur either spontaneously or by a dominant autosomal inheritance, with no predilection of genre or ethnic group (Silva et al, 1995; Neville et al, 2004)

Cleidocranial dysplasia A genetic disorder of bone development characterized by: {{}}Absent or incompletely formed collar bones (the cleido- part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or nearly so; and Typical cranial and facial abnormalities with square skull, late closure of the sutures of the skull, late closure of the. GeneReviews (Add filter) Published by GeneReviews®, 16 November 2017. CLINICAL CHARACTERISTICS: Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a... Type: Evidence Summaries (Add filter) Add this result to my export selection CLEIDOCRANIAL DYSOSTOSIS (DYSPLASIA) Cleidocranial dysostosis is an autosomal dominant disorder characterized by absence or hypoplasia of the clavicles, abnormalities of the skull and abnormal dentition. The prognosis appears to be related to the extent of orthopedic involvement, with wide variability of manifestations, even within the same family Cleidocranial dysplasia is an autosomal dominant condition characterized by defective midline ossification, including abnormalities of the calvarium, dentition, clavicles, sternum, and pelvis. Incidence is 1 per 1,000,000 live births. Only gold members can continue reading

Cleidocranial dysplasia - National Institutes of Healt

Cleidocranial Dysplasia usually affects the teeth and the collarbones. The absence or inadequate development clavicle bones causes this disease. As a result of this disease, the shoulders become close to each other, deformities occur in the bones of the head; teeth do not collapse or develop insufficiently Cleidocranial Dysplasia. Zamira Nazará , Rubén Fragoso , Alejandro Hernández , José-María Cantú. Zamira Nazará, Rubén Fragoso, Alejandro Hernández, José-María Cantú. Author Affiliations. Departamento de Radiodiagnostico (HE), División de Genética y Hematología, Instituto Mexicano del Seguro Social, Apartado Postal 1-3838. Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth. This condition may be inherited, be transmitted as dominant characteristics in either sex, or even may appear spontaneously. It presents with skeletal defects of several bones, like partial or complete absence of clavicles, late closure of the fontanels, presence of open skull sutures and multiple wormian bones Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder, characterized by delayed closure of anterior fontanelle, absent or hypoplastic clavicles, dental problems, and short stature. Usually, the presenting complaints are open anterior fontanelle and dental abnormalities Cleidocranial dysplasia: clinical and molecular genetics Stefan Mundlos Abstract Cleidocranial dysplasia (CCD) (MIM 119600) is an autosomal dominant skeletal dysplasia characterised by abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. The dis-ease gene has been.

Causes of dysplasia. Skin and deep appendages (hair, nails, teeth and sweat glands) are hereditary diseases manifested by impaired development. There are many types of ectodermal dysplasia with the most common type; Anhidrotic cleidocranial dysplasia (type with sweating / lack of sweat) that passes through the X-chromosome is observed only in males.. Cleidocranial dysplasia (CCD) is a rare congenital autosomal dominant skeletal disorder. The disorder is caused by heterozygosity of mutations in human RUNX2, which is present on the short arm of chromosome 6p21. The incidence of CCD is one per million births. CCD appears spontaneously with no apparent genetic cause in approximately 40% of affected patients, and one in three patients has. Cleidocranial dysplasia (CCD) 879.000000000000: Cleidocranial dysplasia (CCD) Cleidocranial dysplasia (CCD) C: English: Genetics: Child (0-12 years);Teen (13-18 years Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal syndrome (1: 1,000,000) with almost a complete genetic penetrance with a variable clinical expression 1,2, caused by a mutation in the RUNX2 (Runt-related transcription factor 2) 1. This gene encodes the synthesis of RUNX2 protein, also called CBFA1 (core-binding factor subunit. Top 25 questions of Cleidocranial Dysplasia - Discover the top 25 questions that someone asks himself/herself when is diagnosed with Cleidocranial Dysplasia | Cleidocranial Dysplasia foru

Cleidocranial Dysplasia: Management of the Multiple

Cleidocranial dysplasia: clinical and molecular genetic

Introduction . Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals, with complete penetrance and widely variable expressivity. Aim . To identify the incidence of these clinical findings in the report of the. Milly Shapiro was born with a rare hereditary medical condition known as Cleidocranial Dysplasia. This is a congenital disability that is inherited from the parents. It affects the development of teeth and collar bones. Those diagnosed with this condition also have some little deformity on their faces 119600 - CLEIDOCRANIAL DYSPLASIA; CCD To ensure long-term funding for the OMIM project, we have diversified our revenue stream

My Life With Cleidocranial Dysplasia. March 23 ·. Sooooooo..last month I turned 14. Happy Birthday to me!!! I am well into my teen years! Did you know that Cleidocranial Dysplasia does not affect life expectancy. I will live for many more years. Read more about CCD in this article written by John Hopkins Medicine My Life With Cleidocranial Dysplasia. 469 likes · 1 talking about this. My name is Trinity and I was recently diagnosed with CCD or Cleidocranial Dysplasia in the fall of 2018. Since then I have been.. Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities

Kniest's Dysplasia - Pediatrics - Orthobullets

Gaten Matarazzo of Netflix's Stranger Things reveals he is undergoing his fourth Cleidocranial Dysplasia related surgery: 'This is a big one!' By Carly Johnson For Dailymail.com. Published: 18:20. Cleidocranial dysplasia primarily affects the development of bones and teeth, persons with the disorder often have underdeveloped or absent collarbones (clavicles) Cleidocranial dysplasia is a rare birth condition most notable for the lack of collarbones (or small collarbones- clavicles).While this is recognizable, other findings include abnormalities of the teeth as well as delaying closing of the fontanelles (skull bone deficits) Cleidocranial dysplasia. A molecular and clinical review Abstract Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt-relate Cleidocranial dysplasia: A genetic ( inherited) disorder of bone development characterized by: Absent or incompletely formed collar bones (the cleido- part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or nearly so; and. Typical cranial and facial abnormalities with square skull, late.

Cleidocranial Dysplasia: Symptoms, Causes, Diagnosis, and

Cleidocranial dysplasia causes, symptoms & cleidocranial

Cleidocranial dysostosis Radiology Reference Article

the cleidocranial dysplasia, the craniofacial characteristics consists of the main reason of the medical-odontological visits to the doctor. That is why the odontologist is so important in the diagnosis of this condition, as well as in the implementation of a therapeutic multidisciplinary planning Cleidocranial Dysplasia is a Rare Disorder That Affects Males and Females Equally. Cleidocranial Dysplasia (CCD) is a genetic condition characterized by defective development of the cranial bones, complete or partial absence of the clavicles, and other distinctive characteristics that will be discussed in this article Abigail Shapiro grew up with cleidocranial dysplasia, a rare bone disorder that affects about one in a million people. The genetic disease, which both Shapiro's mother and sister also have, can affect the development of certain bones and teeth. I grew up having around 12 surgeries and constant orthodontia Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt−related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental.

Cleidocranial Dysplasia - NORD (National Organization for

Cleidocranial dysplasia is an autosomal dominant disorder characterized by absent or hypoplastic clavicles and dysplasia of the osseous tissue of the cranium. It shows a wide variability in expression, although usually with complete penetrance. Other findings may include general Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth. This condition may be inherited and be transmitted as dominant characteristics in either gender, or may appear spontaneously. It presents with skeletal defects of several bones, such as partial or complete absence of clavicles, late closure of the fontanels. Cleidocranial dysplasia (CCD) is a congenital anomaly characterized by the presence of impacted supernumerary teeth and delayed eruption of permanent teeth. However, there has been no detailed investigation on supernumerary teeth in patients with CCD using three‐dimensional (3D) imaging techniques Cleidocranial dysplasia is a rare, autosomal dominant disease that is associated with clavicular absence or hypoplasia. Permanent pacemakers are most commonly implanted using percutaneous subclavian venous access. The clavicle is typically used as a bony landmark to guide venous access. Transvenous pacemaker implantation in the setting of clavicular hypoplasia, resection or other anomalies has. According to the Genetic and Rare Diseases Information Center (GARD), a division of the National Institutes of Health, cleidocranial dysplasia (CCD) is a genetic condition that primarily affects.

Synonyms for Cleidocranial dysplasia in Free Thesaurus. Antonyms for Cleidocranial dysplasia. 8 words related to dysplasia: aplasia, fibrous dysplasia of bone, hypertrophy, hyperplasia, hypoplasia, anaplasia, abnormalcy, abnormality. What are synonyms for Cleidocranial dysplasia Stranger Things actor Gaten Matarazzo discusses his lifelong battle with cleidocranial dysplasia, an extremely rare disease Cleidocranial dysplasia is a rare disorder caused by a mutation of the genes that control the development of bones, cartilage, and teeth. The condition affects the growth and development of teeth.

Displasia cleidocraniana: o que é, como afeta os dentes

Cleidocranial Dysplasia: Get Facts on Treatmen

  1. ant pattern. 1,2 The RUNX2 gene encodes a transcription factor required in osteoblast differentiation, chondrocyte maturation, and skeletal morphogenesis. 1-
  2. Cleidocranial dysplasia is a skeletal condition which mostly affects the bones and teeth. It can result in the growth of additional teeth. Gaten has previously opened up about wanting to raise awareness of the condition and he's also admitted that it had stopped him from being cast in acting jobs before
  3. ant condition, causing hypoplasia of the clavicle, abnormal formation of teeth, skeletal and craniofacial bones. CCD is caused by the mutation of RUNX2/CBFA1 present in the short arm of chromosome 6 at position 21.1, a transcription factor essential for the formation of teeth, cartilage and bone
  4. ant disorder mainly characterised by hypoplastic or absent clavicles, delayed closure of fontanelles, multiple dental abnormalities, and short stature [1,2,3].Variants in runt-related transcription factor 2 (RUNX2) gene (OMIM *600211) can result in haploinsufficiency of the protein and have been related to CCD [1, 2]
13

Cleidocranial Dysplasia - an overview ScienceDirect Topic

cleidocranial dysplasia. osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull. Upload media. Wikipedia Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by absence or hypoplasia of the clavicles, an open fontanelle [(1-4)][1], and malaligment of the teeth [(2)][2]. In previous reports, CCD was diagnosed by plain X-ray films of the cranium and chest. These may sho Hypophosphatasia (HPT) and cleidocranial dysplasia (CCD) are rare genetic disorders characterized by both defective ossification and bone mineralization. Patients usually present with craniosynostosis and cranial defects which in many cases require surgical repair. There is only 1 reported case of. Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and delayed skeletal development 1.The.

Cleidocranial dysplasia is a rare autosomal dominant condition with generalized dysplasia of bone, characterized by delayed closure of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities. In this case report, we describe an otherwise healthy 11 year-old male child with a chief complaint of missing anterior. Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder aff ecting skeletal and dental tissues. The diagnosis of this syndrome is usually delayed, but the prognosis is good if appropriately managed. The involvement of facial bones, altered eruption patterns and presence of multiple supernumerary teeth warrants a clinical concern for dental health professionals Was born with cleidocranial dysplasia, a rare genetic condition which caused him to be born without collar bones, and which affected the development of his facial bones, skull and teeth. According to Gaten, his case is mild. After Gaten was cast, the condition was written into the script

CLEIDOCRANIAL DYSPLASIA - SlideShar

  1. cleidocranial dysplasia: خلل التنسج الترقوي القحفي. cleidocranial dysplasia. Medical : cleidocranial dysplasia: خلل تنسج ترقوي قحفي. cleidocranial dysplasia. Medical : cleidocranial dysplasia syndrome : متلازمة خلل التنسج الترقوي القحفي. cleidocranial dysplasia syndrom
  2. Cleidocranial dysplasia yang juga dikenal sebagai CCD, memengaruhi satu dari 1 juta anak dan dapat diturunkan dari orang tua atau disebabkan oleh mutasi acak, menurut CCD Smiles. Karakteristik umum dari kondisi ini adalah kelainan gigi, tulang selangka yang kurang berkembang atau tidak ada, dan keterlambatan penutupan ruang antara tulang tengkorak
  3. To study the present treatment situation and investigate a better orthodontic approach for patients with cleidocranial dysplasia (CCD) through systematically reviewing the published cases and to conclude the surgical-orthodontic treatment experience of cleidocranial dysplasia. A comprehensive search for studies published through to April 10, 2018 was conducted using the Pubmed, Web of Science.

Cleidocranial dysplasia (CCD) is a dominantly inherited disorder characterized by patent fontanelles, wide cranial sutures, hypoplasia of the clavicles, short stature, and supernumerary teeth. In addition, other skeletal anomalies and osteoporosis are common [1, 2]

Matilda's Milly Shapiro and Her Sister Abigail Share TheirBrachymetatarsia - Pediatrics - OrthobulletsCalvarial defects and skeletal dysplasia in patients with
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