Pediatric Brachydactyly-Spheroid Lens Syndrome

Brief introduction of pediatric short finger-spherical crystal ectopic syndrome Short finger-spherical crystal ectopic syndrome (brachydactylia-ectopialentissyndrome), short finger-spherical crystal syndrome, also known as Weill-Marchesani syndrome, mesoderm dystrophic dystrophies, congenital mesodermal dystrophy syndrome, Marchesani syndrome, Marfan conversion syndrome, short finger-lens subluxation syndrome, eye-short limb-short body syndrome. Because it is exactly the opposite of the characteristics of the ectopic spider's syndrome, it is also called the "opposite horse syndrome". This disease is a rare hereditary disease with systemic abnormalities, secondary to glaucoma. The incidence is high, and myopia is often in childhood, with an average age of 12.2 years. basic knowledge Sickness ratio: 0.0001% Susceptible people: children Mode of infection: non-infectious Complications: glaucoma

Pediatric short finger - the cause of globular crystal ectopic syndrome

(1) Causes of the disease

The genetic pattern of this disease is recessive, and it is also considered to be dominant.

(two) pathogenesis

The symptoms may have a family history, which is a hereditary disease, and the symptoms may be all or part of the performance, due to the excessive proliferation of the mesodermal tissue and the dystrophies of the proliferating mesodermal tissue.

Pediatric short finger - globular crystal ectopic syndrome prevention

With reference to the prevention of congenital diseases, preventive measures should be carried out from pre-pregnancy to prenatal:

Pre-marital medical examination plays an active role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV) and reproductive system examination (such as screening for cervical inflammation). General medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.

The prenatal diagnostic techniques used are: 1 amniocentesis cell culture and related biochemical tests (amniotic puncture time is appropriate for 16 to 20 weeks of pregnancy); 2 maternal blood and amniotic fluid alpha-fetoprotein determination; 3 ultrasound imaging (applicable in about 4 months of pregnancy) 4X line examination (after 5 months of pregnancy) is beneficial for the diagnosis of fetal skeletal malformation; 5 chromatin determination of villus cells (40 to 70 days of conception), predicting fetal sex to help diagnose X-linked genetic diseases; 6 application gene linkage analysis; 7 fetal microscopy.

Through the application of the above technology, the birth of a fetus with severe genetic diseases and congenital malformations is prevented.

Pediatric short finger - spheroidal crystal ectopic syndrome complications Complications glaucoma

Secondary glaucoma, congenital pupillary membrane remains, visual acuity is significantly reduced or even blind.

Pediatric short finger - globular crystal ectopic syndrome symptoms common symptoms short neck

Abnormal congenital lens position is associated with systemic syndrome of mesoderm, especially bone dysplasia.

Eye performance

(1) Small spherical crystal: the diameter is small, and the front and rear diameters are relatively increased.

(2) Crystal shift: The crystal is displaced downward, and crystal dislocation may occur, which is caused by the absence or abnormal relaxation of the crystal small band.

(3) secondary glaucoma: up to 85.7%, such glaucoma dripping tincture increased intraocular pressure, while drip dilating agent decreased intraocular pressure, so it is called "abnormal glaucoma".

(4) Other eye abnormalities: such as congenital pupillary membrane residual, corneal nodular degeneration, retinal detachment, etc.

(5) Vision, myopia -16.00DS, but the fundus is non-high myopia type, glaucoma is an important cause of visual loss or even blindness in this syndrome. It is generally believed that the increase in intraocular pressure is attributed to pupillary block and/or room. The angle is narrowed, or because of an abnormality in the angle of the anterior chamber, it is considered to be the same as primary glaucoma, and the abnormality of the crystal is only a factor that aggravates glaucoma rather than a cause.

2. General performance

Short and short toe, hand and foot are like sputum, short limb deformity, short stature (average height 148cm after adulthood), short head and round, short neck, wide thoracic, X-ray showing limb skeletal growth retardation.

3. Intelligence is normal.

Pediatric short finger - examination of globular crystal ectopic syndrome

General routine examinations such as hematuria are normal.

1. X-ray examination of the metacarpal and phalanx of the hand is shortened and widened symmetry, the ossification of the wrist is delayed, and the foot and toe are also in the process of ossification delay.

2. Fundus examination may have retinitis pigmentosa and optic atrophy.

Diagnosis and differentiation of pediatric short finger-spherical crystal ectopic syndrome

Diagnosis was based on typical clinical presentation and X-ray characteristics.

It is differentiated from Marfan syndrome and homocystinuria.

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