SYNDROMES and their clinical features

GARDNER SYNDROME
Gardner syndrome which was first described in 1953

Gardner syndrome, also known as familial colorectal polyposis, is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts, as well as the occurrence of desmoid tumors in approximately 15% of affected individuals.


Diagnosis
Gardner syndrome can be identified based on oral findings, including multiple impacted and supernumerary teeth, multiple jaw osteomas which give a "cotton-wool" appearance to the jaws, as well as multiple odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE), in addition to multiple adenomatous polyps of the colon. Gardner syndrome is also associated with FAP (Familial Adenomatous Polyposis) and may manifest as aggressive fibromatosis (desmoid tumors) of the retroperitoneum


treatments are surgery and palliative care, although some chemotherapy has been tried with limited success

 

Eagle syndrome is a rare condition where an elongated styloid process (more than 30mm) is in conflict with the adjacent anatomical structures.

Amazing x ray view that show clearly this syndrome

white arrow (elongated styloid process )

red arrow show trachea
Patients with the classic "Eagle Syndrome" can present with unilateral sore throat, dysphagia, tinnitus, unilateral facial and neck pain, and otalgia.
In patients with the vascular form of "Eagle syndrome", the elongated styloid process is in contact with the extracranial internal carotid artery. This can cause a compression (while turning the head) or a dissection of the carotid artery causing a transient ischemic event or a stroke.

the treatment is surgical.A partial styloidectomy is the preferred approach

 

Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. As a consequence, bone modeling and remodeling are impaired. The defect in bone turnover characteristically results in skeletal fragility despite increased bone mass, and it may also cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment.

Manifestations include deafness, proptosis, and hydrocephalus.
Dentition may be delayed
Osteomyelitis of the mandible is common due to an abnormal blood supply
Bones are fragile and can fracture easily
Defective osseous tissue tends to replace bone marrow, which can cause bone marrow failure with resultant pancytopenia

many Other manifestations

Radio graphically
Patients usually have generalized osteosclerosis. Bones may be uniformly sclerotic, but alternating sclerotic and lucent bands may be noted in iliac wings and near the ends of long bones. The bones may be clublike or may have the appearance of a bone within bone (endobone). Radiographs may also show evidence of fractures or osteomyelitis.

The entire skull is thickened and dense, especially at the base. Sinuses are small and underpneumatized. Vertebrae are extremely radiodense. They may show alternating bands, known as the rugger-jersey sign (see Table 3).

Medications administered in osteopetrosis include the following:

Vitamin-D supplements - Appear to help by stimulating dormant osteoclasts, thus stimulating bone resorption
Corticosteroids - Have also been used to stimulate bone resorption and to treat anemia
Erythropoietin - Another agent that can be used against anemia
Gamma interferon - Improves white blood cell function, greatly decreasing the incidence of new infections

 

Polyostotic fibrous dysplasia (also known as "Albright's disease" is a form of fibrous dysplasia affecting more than one bone.
The McCune-Albright syndrome includes polyostotic fibrous dysplasia as part of its presentation.

McCune–Albright syndrome

McCune–Albright syndrome, is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty.

 

Cleidocranial dysostosis is a general skeletal condition so named from the collarbone (cleido-) and cranium deformities which people with it often have
it is a hereditary congenital disorder

clinical features :

Clavicles (collarbones) can be partly missing leaving only medial part of bone. In 10% cases, they are completely missing.
If the collarbones are completely missing or reduced to small vestiges, this allows hypermobility of the shoulders including ability to touch the shoulders together in front of the chest


-Mandible is prognathic due to hypoplasia of maxilla (micrognathism) and other facial bones
-A soft spot or larger soft area in the top of the head where the fontanelle failed to close, or the fontanelle closes late.

-Bones and joints are underdeveloped. People are shorter and their frames are smaller than their siblings who do not have the condition.

Panoramic view of the jaws showing multiple unerupted supernumerary teeth mimicking premolar, missing gonial angles and underdeveloped maxillary sinuses in cleidocranial dysplasia.The permanent teeth include supernumerary teeth. Unless these supernumeraries are reabsorbed before adolescence, they will crowd the adult teeth in what already may be an underdeveloped jaw. If so, the supernumeraries will probably need to be removed to make space for the adult teeth. . Teeth may also be displaced in orbits. Cement formation is also deficient
Failure of eruption of permanent teeth.
Bossing (bulging) of the forehead.
Open skull sutures, large fontanelles.
-others

 

Cleidocranial dysostosis is a general skeletal condition so named from the collarbone (cleido-) and cranium deformities which people with it often have
it is a hereditary congenital disorder

clinical features :

Clavicles (collarbones) can be partly missing leaving only medial part of bone. In 10% cases, they are completely missing.
If the collarbones are completely missing or reduced to small vestiges, this allows hypermobility of the shoulders including ability to touch the shoulders together in front of the chest


-Mandible is prognathic due to hypoplasia of maxilla (micrognathism) and other facial bones
-A soft spot or larger soft area in the top of the head where the fontanelle failed to close, or the fontanelle closes late.

-Bones and joints are underdeveloped. People are shorter and their frames are smaller than their siblings who do not have the condition.

Panoramic view of the jaws showing multiple unerupted supernumerary teeth mimicking premolar, missing gonial angles and underdeveloped maxillary sinuses in cleidocranial dysplasia.The permanent teeth include supernumerary teeth. Unless these supernumeraries are reabsorbed before adolescence, they will crowd the adult teeth in what already may be an underdeveloped jaw. If so, the supernumeraries will probably need to be removed to make space for the adult teeth. . Teeth may also be displaced in orbits. Cement formation is also deficient
Failure of eruption of permanent teeth.
Bossing (bulging) of the forehead.
Open skull sutures, large fontanelles.
-others

 

Sturge–Weber syndrome. Note the trigeminal distribution of the capillary stain. Also note the slant of the tongue depressor demonstrating the cross-bite deformity secondary to craniofacial overgrowth



Sturge–Weber syndrome,(encephalotrigeminal angiomatosis), is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, mental retardation, and ipsilateral leptomeningeal angioma. It is characterized by abnormal blood vessels on the brain surface. Normally, only one side of the brain is affected.

Sturge-Weber is an embryonal developmental anomaly resulting from errors in mesodermal and ectodermal development

 

Neurofibromatosis : neurofibromatosis type 1 is also known as von Recklinghausen disease) is a genetically-inherited disorder in which the nerve tissue grows tumors (neurofibromas) that may be benign and may cause serious damage by compressing nerves and other tissues. The disorder affects all neural crest cells (Schwann cells, melanocytes and endoneurial fibroblasts). Cellular elements from these cell types proliferate excessively throughout the body, forming tumors; melanocytes also function abnormally in this disease, resulting in disordered skin pigmentation and café au lait spots. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems>

Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity in affected individuals can vary; this may be due to variable expressivity. Approximately half of cases are due to de novo mutations and no other affected family members are seen. It affects males and females equally.

 

Ramsay Hunt syndrome is defined as an acute peripheral facial neuropathy associated with erythematous vesicular rash of the skin of the ear canal, auricle (also termed herpes zoster oticus), and/or mucous membrane of the oropharynx

Ramsay Hunt syndrome is defined as VZV infection of the head and neck that involves the facial nerve, often the seventh cranial nerve (CN VII). Other cranial nerves (CN) might be also involved, including CN VIII, IX, V, and VI (in order of frequency). This infection gives rise to vesiculation and ulceration of the external ear and ipsilateral anterior two thirds of the tongue and soft palate, as well as ipsilateral facial neuropathy (in CN VII), radiculoneuropathy, or geniculate ganglionopathy.

Corticosteroids and oral acyclovir are commonly used in the treatment of Ramsay Hunt syndrome.

note .varicella-zoster virus [VZV]

 

The Molar Tooth Sign

The molar tooth sign is seen on transverse computed tomographic (CT) and magnetic resonance (MR) images obtained at the level of the midbrain in patients with Joubert syndrome. The term molar tooth refers to the characteristic appearance of an enlarged and horizontally directed tubular structure on each side of the midline emerging from the midbrain

... ... Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.

Diagnosis
The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign).
The most common features include ataxia (lack of muscle control), hyperpnea (abnormal breathing patterns), sleep apnea, abnormal eye and tongue movements, and hypotonia

Treatment for Joubert syndrome is symptomatic and supportive.

This is MRI obtained at the level of the midbrain demonstrates thickened superior cerebellar peduncles (arrows) with a deep midline cleft at the pontomesencephalic junction. The absence of decussating superior cerebellar peduncular axons causes the characteristic molar tooth sign in patients with Joubert syndrome.

 

Basal Cell Nevus Syndrome (Gorlin’s Syndrome)

Multiple KCOTs may be present solely or may represent
the basal cell nevus syndrome

Jarisch (1894) first reported this disorder, detailed description was given by Gorlin (1965). It is most likely, a genetic disorder, which is inherited through an autosomal dominant gene. It is seen equally in both sexes. Some of the presenting features are as follows:

Facies
• Frontal and temporoparietal bossing
• Prominent supraorbital ridges in men
• Hypertelorism
• Mandibular prognathism

Skeletal anomalies
• Bifid, fused, rudimentary ribs
• Occult spina bifida
• Bridging of the sella turcica
• Shortening of metacarpals
• Calcification of falx cerebri .

Skin lesions
• Milia, around eyes
• Dyskeratosis (palms and soles)
• Epidermal cysts (mostly hands)
• Basal cell nevi
• Basal cell carcinomas

Cystic KCOT Lesions
Fifty percent may show multiple KCOTs of the jaw
bones.

Soft tissue anomalies
• Ovarian fibromata
• Lipomas