Categories
Ailmemts & Remedies Pediatric

Kabuki Syndrome

Definition:

Kabuki syndrome is a rare disorder characterized by unusual facial features, skeletal abnormalities, and intellectual impairment. Abnormalities in different organ systems can also be present, but vary from individual to individual. There is no cure for Kabuki syndrome, and treatment centers on the specific abnormalities, as well as on strategies to improve the overall functioning and quality of life of the affected person.Kabuki syndrome appears to be found equally in males and females.

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Scientific research conducted over the past two decades suggests that Kabuki syndrome may be associated with a change in the genetic material. However, it is still not known precisely what this genetic change may be and how this change in the genetic material alters growth and development in the womb to cause Kabuki syndrome.

In Japan, it has been estimated that about one in 32,000 babies is born with Kabuki syndrome (which could mean about 50 cases a year in the UK). Although originally reported in Japan, cases have now been described around the world.

It was discovered and described in 1981 by two Japanese groups, led by the scientists Niikawa and Kuroki (hence the name). It is named Kabuki Syndrome because of the facial resemblance of affected individuals with white Kabuki makeup, a Japanese traditional theatrical form. On the Kabuki Syndrome listserv, children with this syndrome are called Kabuki Kids, or KKs.

Symptoms:
People with the syndrome have an unusual facial appearance, characterised by large eyes, long and thick eyelashes and arched eyebrows.

Infants usually have normal birth weight, but most will not grow as quickly as expected. Delay in speech and language development is very common. Many infants also have problems feeding.

Kabuki syndrome is very complex and there are many other manifestations.

Cause:
The cause is unknown – a genetic abnormality is suspected but has not yet been identified.It’s likely that if a gene is involved it’s a rare and random mutation that occurs sporadically.

Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them appear to be specific to Kabuki Syndrome. In August 2010, a study found that two thirds of the cases have a loss-of-function mutation in the MLL2 gene, which is coding for a histone methyltransferase; it can participate in epigenetic programming, and is thought to contribute to developmental processes.

Diagnosis
The diagnosis of Kabuki syndrome relies on physical exam by a physician familiar with the condition and by radiographic evaluation, such as the use of x rays or ultrasound to define abnormal or missing structures that are consistent with the criteria for the condition (as described above). A person can be diagnosed with Kabuki syndrome if they possess characteristics consistent with the five different groups of cardinal symptoms: typical face, skin-surface abnormalities, skeletal abnormalities, mild to moderate mental retardation, and short stature.

Although a diagnosis may be made as a newborn, most often the features do not become fully evident until early childhood. There is no laboratory blood or genetic test that can be used to identify people with Kabuki syndrome.

Treatment ;
There is no cure for Kabuki syndrome. Treatment of the syndrome is variable and centers on correcting the different manifestations of the condition and on strategies to improve the overall functioning and quality of life of the affected individual.

For children with heart defects, surgical repair is often necessary. This may take place shortly after birth if the heart abnormality is life threatening, but often physicians will prefer to attempt a repair once the child has grown older and the heart is more mature. For children who experience seizures, lifelong treatment with anti-seizure medications is often necessary.

Children with Kabuki syndrome often have difficulties feeding, either because of mouth abnormalities or because of poor digestion. In some cases, a tube that enters into the stomach is surgically placed in the abdomen, and specially designed nutritional liquids are administered through the tube directly into the stomach.

People with Kabuki syndrome are at higher risk for a variety of infections, most often involving the ears and the lungs. In cases such as these, antibiotics are given to treat the infection, and occasionally brief hospital stays are necessary. Most children recover from these infections with proper treatment.

Nearly half of people affected by Kabuki syndrome have some degree of hearing loss. In these individuals, formal hearing testing is recommended to determine if they might benefit from a hearing-aid. A hearing aid is a small mechanical device that sits behind the ear and amplifies sound into the ear of the affected individual. Occasionally, hearing loss in individuals with Kabuki syndrome is severe, approaching total hearing loss. In these cases, early and formal education using American Sign Language as well as involvement with the hearing-impaired community, schools, and enrichment programs is appropriate.

Children with Kabuki syndrome should be seen regularly by a team of health care professionals, including a primary care provider, medical geneticist familiar with the condition, gastroenterologist, and neurologist. After growth development is advanced enough (usually late adolescence or early adulthood), consultation with a reconstructive surgeon may be of use to repair physical abnormalities that are particularly debilitating.

During early development and progressing into young adulthood, children with Kabuki syndrome should be educated and trained in behavioral and mechanical methods to adapt to any disabilities. This program is usually initiated and overseen by a team of health care professionals including a pediatrician, physical therapist, and occupational therapist. A counselor specially trained to deal with issues of disabilities in children is often helpful is assessing problem areas and encouraging healthy development of self-esteem. Support groups and community organizations for people with disabilities often prove useful to the affected individuals and their families, and specially equipped enrichment programs should be sought. Further, because many children with Kabuki syndrome have poor speech development, a consultation and regular session with a speech therapist is appropriate.

Prognosis:
The abilities of children with Kabuki syndrome vary greatly. Most children with the condition have a mild to moderate intellectual impairment. Some children will be able to follow a regular education curriculum, while others will require adaptations or modifications to their schoolwork. Many older children may learn to read at a functional level.

The prognosis of children with Kabuki syndrome depends on the severity of the symptoms and the extent to which the appropriate treatments are available. Most of the medical issues regarding heart, kidney or intestinal abnormalities arise early in the child’s life and are improved with medical treatment. Since Kabuki syndrome was discovered relatively recently, very little is known regarding the average life span of individuals affected with the condition, however, present data on Kabuki syndrome does not point to a shortened life span.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/kabuki2.shtml
http://www.healthline.com/galecontent/kabuki-syndrome-1
http://en.wikipedia.org/wiki/Kabuki_syndrome

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Categories
Ailmemts & Remedies

Joubert syndrome

Alternative Names:  Cerebellar vermis agenesis or Cerebelloparenchymal disorder IV

Definition:
Joubert syndrome is a rare inherited disorder of the brain. It is a genetic birth defect in which the area of the brain that controls balance and coordination is underdeveloped.It is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis – an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), jerky eye movements (oculomotor apraxia), mental retardation, and the inability to coordinate voluntary muscle movements (ataxia).

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An area at the back of the brain which is important for balance and co-ordination, called the cerebellum normally has two interconnected halves or hemispheres. In Joubert syndrome the connection between the two halves, known as the cerebellar vermis, fails to develop properly. As a result, one of the main features of Joubert syndrome is poorly controlled or unsteady movement, known as ataxia.

The severity of the condition varies from child to child, depending on the extent of the abnormalities of the brain. Some children are only mildly affected while others (even within the same family) have severe disabilities.

It occurs in both males and females, in about one in 100,000 births. Joubert syndrome often occurs in a child with no family history of the disorder, but in some children the syndrome appears to be inherited.

Symptoms:
The symptoms of Joubert syndrome are related to the underdevelopment of an area of the brain called the cerebellar vermis, which controls balance and muscle coordination. The symptoms, which may range from mild to severe depending on how much the brain is underdeveloped, may include:

•Periods of abnormally rapid breathing (episodic hyperpnea), which may seem like panting

•jerky eye movements (nystagmus)

•characteristic facial features such as drooping eyelids (ptosis), open mouth with protruding tongue, low-set ears

•mental retardation

•difficulty coordinating voluntary muscle movements (ataxia)
Other birth defects such as extra fingers and toes (polydactyly), heart defects, or cleft lip or palate may be present. Seizures may also occur.

Causes:
Joubert syndrome is a genetic abnormality inherited in an autosomal recessive fashion. This means that if both parents are carriers, there is a 1 in 4 chance that each child will have the disease.

Diagnosis:
The most pronounced symptom in a newborn infant with Joubert syndrome is periods of abnormally rapid breathing, which may be followed by stopping breathing (apnea) for up to one minute. Although these symptoms may occur in other disorders, there are no lung problems in Joubert syndrome, which helps identify it as the cause of the abnormal breathing.

A magnetic resonance imaging (MRI) scan can look for the brain abnormalities that are present in Joubert syndrome and confirm the diagnosis.

Treatment:
There is no cure for Joubert syndrome, so treatment focuses on the symptoms such as breathing problems and to support the child’s development.. Infants with abnormal breathing may have a breathing (apnea) monitor for use at home, especially at night. Physical, occupational, and speech therapy may be helpful for some individuals. Individuals with heart defects, cleft lip or palate, or seizures may require more medical care.

Prognosis:
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

Research:
The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.

Research has revealed that a number of genetic disorders, not previously thought to be related, may indeed be related as to their root cause. Joubert syndrome is one such disease. It is a member of an emerging class of diseases called cilopathies.

The underlying cause of the ciliopathies may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect “numerous critical developmental signaling pathways” essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases.

Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/joubert1.shtml
http://www.ninds.nih.gov/disorders/joubert/joubert.htm
http://www.ninds.nih.gov/disorders/joubert/joubert.htmhttp://www.ninds.nih.gov/disorders/joubert/joubert.htm

http://www.joubertfoundation.com/

http://www.health-news-blog.com/blogs/permalinks/6-2007/the-fifth-gene-responsible-for-joubert-syndrome.html

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Ailmemts & Remedies

Acrodysostosis

Alternative Names  :Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

Definition:
Acrodysostosis is an extremely rare  genetic disorder that is present at birth. It is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, mental deficiency in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back i.e. [[ ]]), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, Intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.

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Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in a autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with older parental age.

Symptoms:
•Growth problems, short arms and legs
•Frequent middle ear infections
•Hearing problems
•Unusual looking face
•Mental deficiency

People with acrodysostosis have certain bones that mature rapidly, before they’ve had enough time to grow fully. The bones most often affected are those of the nose and jaw, and the long tubular bones of the hands and feet.

This abnormal bone development results in a collection of characteristic features, including a typical facial appearance (short nose, open mouth and prominent jaw), small hands and feet.

Those with acrodysostosis often have some degree of mental retardation and learning difficulties.

Causes:
The gene responsible for acrodysostosis has not yet been identified and the condition may result from different genetic problems rather than one specific condition.

Most patients with acrodysostosis have no family history of the disease. However, sometimes the condition is passed down from parent to child.

It appears to be inherited in an autosomal dominant fashion. This means that if one parent is carrying the gene, they will be normal but there is a one in two chance that any child of theirs will have the condition and seems to be more common among older parents.

There is a slightly greater risk with fathers who are older.

Diagnosis:
Exams and Tests
A physical exam confirms this disorder.

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Findings may include:

•Advanced bone age
•Bone deformities in hands and feet
•Delays in growth
•Problems with the skin, genitals, teeth, and skeleton
•Short arms and legs with small hands and feet
•Short head, measured front to back (brachycephaly)
•Short height
•Small, upturned broad nose with flat bridge
•Unusual features of the face (short nose, open mouth, jaw that sticks out)
•Unusual head
•Wide-spaced eyes (hypertelorism), sometimes with extra skin fold at corner of eye
In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:

•Abnormally short fingers and toes (brachydactyly)
•Early growth of bones in the hands and feet
•Short bones
•Shortening of the forearm bones near the wrist

Treatment:
There’s no cure for acrodysostosis but appropriate support by orthopaedic surgeons and paediatricians is important.

Treatment depends on the physical and mental problems that occur.

Antenatal diagnosis may be made by ultrasound examination of the bones in babies whose mother has the condition, but routine screening isn’t done.

Possible Complications:
•Arthritis
•Carpal tunnel syndrome
•Worsening range of movement in the spine, elbows, and hands

Prognosis ;
Problems depend on the degree of skeletal involvement and mental retardation. In general, patients do relatively well.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.nlm.nih.gov/medlineplus/ency/article/001248.htm
http://www.bbc.co.uk/health/physical_health/conditions/acrodysostosis1.shtml
http://en.wikipedia.org/wiki/Acrodysostosis

http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=1098

http://health.allrefer.com/health/acrodysostosis-info.html

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Categories
Ailmemts & Remedies Pediatric

Microcephaly

Definition:
Microcephaly (my-kroh-SEF-uh-lee) is a rare  neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person’s age and sex. Microcephaly may be congenital or it may develop in the first few years of life. The disorder may stem from a wide variety of conditions that cause abnormal growth of the brain, or from syndromes associated with chromosomal abnormalities. Two copies of a loss-of-function mutation in one of the microcephalin genes causes primary microcephaly.

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Sometimes detected at birth, microcephaly usually is the result of the brain developing abnormally in the womb or not growing as it should after birth.

Microcephaly can be caused by a variety of genetic and environmental factors. Children with microcephaly often have developmental issues. Generally there’s no treatment for microcephaly, but early intervention may help enhance your child’s development and improve quality of life.

Symptoms:
The primary sign of microcephaly is:

*A head size significantly smaller than that of other children of the same age and sex.

Head size is measured as the distance around the top of the child’s head (circumference). Using standardized growth charts, the measurement is compared with other children’s measurements in percentiles. Some children just have small heads, which may measure in the third, second or even first percentiles. In children with microcephaly, head size measures significantly below the first percentile.

These characteristics may accompany severe microcephaly:

*Backward sloping forehead
*Large ears
*Visual impairment


Depending on the severity of the accompanying syndrome, children with microcephaly may have:

*mental retardation,
*delayed motor functions and speech,
*facial distortions,
*dwarfism or short stature,
*hyperactivity,
*seizures,
*difficulties with coordination and balance, and
*other brain or neurological abnormalities.

Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they will track below the normal growth curves for head circumference.


Causes:

It is most often caused by genetic abnormalities that interfere with the growth of the cerebral cortex during the early months of fetal development. It is associated with Down’s syndrome, chromosomal syndromes, and neurometabolic syndromes. :

Babies born with microcephaly will have a smaller than normal head that will fail to grow as they progress through infancy.

Microcephaly usually is the result of abnormal brain development, which can occur in the womb (congenital) or in infancy. Microcephaly may be genetic. Other causes may include:

*Craniosynostosis.
The premature fusing of the joints (sutures) between the bony plates that form an infant’s skull keeps the brain from growing. Treating craniosynostosis usually means your infant needs surgery to separate the fused bones. If there’s no underlying brain abnormality, the surgery allows the brain adequate space to grow and develop.

*Chromosomal abnormalities.
Down syndrome and other conditions may result in microcephaly.

*Decreased oxygen to the fetal brain (cerebral anoxia).
Certain complications of pregnancy or delivery can impair oxygen delivery to the fetal brain.

*Infections of the fetus during pregnancy. These include toxoplasmosis, cytomegalovirus, German measles (rubella) and chickenpox (varicella).

*Exposure to drugs, alcohol or certain toxic chemicals in the womb.
Any of these put your baby at risk of brain abnormalities.

*Severe malnutrition
. Not getting adequate nutrition during pregnancy can affect your baby’s development.

*Uncontrolled phenylketonuria (fen-ul-kee-toe-NU-ree-uh), also known as PKU, in the mother. PKU is a birth defect that hampers the body’s ability to break down the amino acid phenylalanine.

Complecations & Risk Factoirs:

Some children with microcephaly will be of normal intelligence and development, even though their heads will always be small for their age and sex. But depending on the cause and severity of the microcephaly, complications may include:

*Developmental delays, such as in speech and movement
*Difficulties with coordination and balance
*Dwarfism or short stature
*Facial distortions
*Hyperactivity
*Mental retardation
*Seizures

In general, life expectancy for individuals with microcephaly is reduced and the prognosis for normal brain function is poor. The prognosis varies depending on the presence of associated abnormalities.

Diagnosis:
To determine whether your child has microcephaly, your doctor likely will take a thorough prenatal, birth and family history and do a physical exam. He or she will measure the circumference of your child’s head, compare it with a growth chart, and remeasure and plot the growth at subsequent visits. Parents’ head sizes also may be measured to determine whether small heads run in the family.

In some cases, particularly if your child’s development is delayed, your doctor may request tests such as a head CT or MRI and blood tests to help determine the underlying cause of the delay.

Treatment :

Generally, there’s no treatment that will enlarge your child’s head or reverse complications of microcephaly.  Early childhood intervention programs that include speech, physical and occupational therapy may help your child strengthen abilities.

Treatment focuses on ways to decrease the impact of the associated deformities and neurological disabilities. Children with microcephaly and developmental delays are usually evaluated by a pediatric neurologist and followed by a medical management team. Early childhood intervention programs that involve physical, speech, and occupational therapists help to maximize abilities and minimize dysfunction. Medications are often used to control seizures, hyperactivity, and neuromuscular symptoms. Genetic counseling may help families understand the risk for microcephaly in subsequent pregnancies.

Certain complications of microcephaly, such as seizures or hyperactivity, may be treated with medication.

Prognosis:

Some children will only have mild disability. Others, especially if they are otherwise growing and developing normally, will have normal intelligence and continue to develop and meet regular age-appropriate milestones.

When you learn your child has microcephaly, you may experience a range of emotions, including anger, fear, worry, sorrow and guilt. You may not know what to expect, and you may worry about your child’s future. The best antidote for fear and worry is information and support. Prepare yourself:

*Find a team of trusted professionals. You’ll need to make important decisions about your child’s education and treatment. Seek a team of doctors, teachers and therapists you trust. These professionals can help evaluate the resources in your area and help explain state and federal programs for children with disabilities.

*Seek out other families who are dealing with the same issues. Your community may have support groups for parents of children with developmental disabilities. You may also find Internet support groups.

Prevention:
Learning your child has microcephaly may raise questions about future pregnancies. Work with your doctor to determine the cause of the microcephaly. If the cause is genetic, you and your spouse may want to talk to a genetic counselor about risks for future pregnancies.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.medicinenet.com/microcephaly/page2.htm
http://www.mayoclinic.com/health/microcephaly/DS01169
http://en.wikipedia.org/wiki/Microcephaly

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Herbs & Plants

Cornu Cervi

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Botanical Name :Cornu Cervi Parvum
Family: Orchidaceae
Subfamily: Epidendroideae
Genus: Phalaenopsis
Species: P. cornu-cervi
Kingdom: Plantae
Order: Asparagales
Pinyin Mandarin Name: Lu Rong
Synonyms : Phalaenopsis devriesiana
Common English Name:  Velvet of Young Deer Horn
Part of Plant Used: Velvet of the horn
Nature: Warm
Taste : Sweet, salty
Habitat :Cornu Cervi is native to  Burma, Borneo, Java, Moloca, Sumatra, Thailand.
Plants grow on trees trunks in the dense forest in India, Myanamar, Thailand, Laos, Vietnam, Nicobar Islands, Malaysia, Java, Borneo, Sumatra, and the Philippines at elevations of 1000 meters and below.
Description:
The very rare red form of Phal. cornu-cervi, the form known as fma. chattaladae, awarded a Silver Medal by the Taiwan Orchid Growers’ Association ! This form of the species is distinct in its solid suffusion of red pigment over every segment of the flower, as opposed to many which are actually Phal. cornu-cervi var. rubescens, where the yellow background of the flower is actually visible on the lateral sepals. These plants can flower and re-flower on the same flattened spikes for several years, so don’t remove them until they have turned brown. A fully mature plant can carry over 6 flowering spikes of fragrant flowers at a time, each spike blooming several times during a single year. Very Highly Recommended.
click & see the pictures
Plant flowers in the spring to fall with 9 to 12 flowers. Flowers are fragrant and 3 to 5 cm wide. The chromosome number is 2n = 38.

The plant was first described by Breda as Polychilos cornu-cervi in 1827. The plants were first cultivated in England by Messrs. Low & Co. when Rev. C. S. brought several plant back in living condition in 1864
Meridians Entered: Liver, Kidneys

Medicinal Usages:
This herb is used in formulas to treat anemia after chronic disease, impotence, and weakness of back and knees with cold intolerance; also used to treat children for failure to thrive, mental retardation, learning disabilities, and skeletal deformities (TCM: deficient :Yang, deficient Blood, and deficient Kidney Yang; deficient Essence).
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Traditional Usages and Functions
Tonifies Kidneys and fortifies Yang; tonifies the Governing Channel, benefits Essence and Blood, and strengthens sinews and bones; bolsters the Penetrating and Conception Channels and strengthens the Girdle Channel; tonifies and nourishes Qi and Blood.

Processing is Required for proper use.

Cautions in Use: Do not use this herb when there is a strong Yin deficiency or heat signs caused by Yin deficiency.

Disclaimer : The information presented herein is intended for educational purposes only. Individual results may vary, and before using any supplement, it is always advisable to consult with your own health care provider.

Resources:
http://www.acupuncture-and-chinese-medicine.com/cornu-cervi.html
http://www.phals.net/cornu-cervi/index_e.html

http://www.orchids.com/Phal-cornu-cervi-f-chattaladae-Red-Wan-Chiao-SMTOGA-x–P4208.aspx
http://orchids.wikia.com/wiki/Phalaenopsis_cornu-cervi

http://en.wikipedia.org/wiki/Phalaenopsis_cornu-cervi