Syndromes Associated with Lymphatic Dysplasia - Page Five
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Genetics: presence of an additional chromosome 10.
Incidence: 1.8% of all spontaneous abortions
All cases of trisomy 10 are mosaic, i.e., the defect is not present in all cells. Babies born live with the condition have usually a very short life expectancy.
Clinical manifestations include: mental and growth retardation, cryptorchidism (undescended testicles), hypertelorism (increased distance between the eyes), marked plantar and palmar furrows and congenital heart defects.
First described by: Klaus Patau, 1960.
Synonyms: Chromosome 13 trisomy syndrome, trisomy 13, Patau syndrome
Bartholin-Patau syndrome, trisomy 13-15, trisomy D.
Genetics: presence of an additional chromosome 13.
Incidence: approximately 1 in 4,000-10,000 birth.
Mosaic trisomy 13 about 5% of cases.
Most usually do not survive the first 3-6 months of life.
Severe mental retardation is common
Holoprosencephaly (forebrain defect), sloping forehead
Wide sagittal suture and fontanelles
Cardiac defects (atrial or ventricular septal defects, dextroposition of the heart)
Kidneys defects (hydronephrosis, hydroureter)
Polydactyly; clinodactyly (condition in which the little finger is curved toward the ring finger)
Single umbilical artery
First description: John Edwards, 1960.
Synonyms: Edwards syndrome, trisomy E, trisomy 16-18.
Genetics: Presence of an additional 18th chromosome.
In 95% of the cases it is a pure trisomy, in 3% it is mosaic and 2% of translocations. (rearrangements of chromosomal material.)
Incidence: Approximately 1 in 3,000-8,000 births.
About ninety percent of these patients do not survive the first year.
1. Craniofacial manifestations
Low set malformed ears
Micrognathia (small jaw)
Cystic hygroma or nuchal edema/thickening
Choroid plexus cysts
Large cisterna magna (increased intracranial space outside the posterior brain)
2. Other manifestations
Cardiac abnormalities (90%): ventricular septal defect, trial septal defect, patent ductus arteriosus
Kidney and ureter abnormalities
Omphalocele (herniation of abdominal contents in the umbilical area)
Trisomy 21 (Down syndrome)
First descriptions: 1838, Jean Etienne Esquirol. John Down, 1866.
Synonyms: Trisomy 21, mongolism, congenital acromicria syndrome. mongoloid idiocy, mongolism, trisomy G, Langdon-Down syndrome, Langdon Down disease, morbus Down.
Genetics: presence of an additional chromosome 21.
Incidence: approximately 1 in 700 births.
Risk increases with the age of the mother.
1. Craniofacial and neurologic manifestations
Mental retardation is present almost 100 % of the time in these individuals, ranging from very mild to severe
Microcephaly, short head
Flat nasal bridge, flattened nose
Protruding, enlarged, fissured tongue
Upward slanting eyes
Epicanthal fold (rounded fold of skin at the inner corners of the eyes)
Small ear canals
2. Musculoskeletal manifestations
- Short and broad hands with short fingers
- abnormal palmar creases (“simian crease”)
- shortening of the middle phalanx of the fifth digit resulting in clinodactyly
3. Cardiologic manifestations
Occurrence: in 50% to 85% of Down syndrome individuals.
Endocardial cushion abnormalities, ventricular septal defects, mitral valve abnormalities.
4. Gastrointestinal manifestations
Esophageal atresia (obstruction of the esophagus)
Duodenal atresia (obstruction of the duodenum)
Anorectal malformations (imperforate anus)
5. Nephrologic manifestations
Renal pyelectasis (dilation of the renal pelvis) (25%)
6. Other manifestations
Acute myeloid leukemia.
Delayed puberty, early menopause
Short umbilical cord
Synonyms and related Syndromes: Cat Eye, Cayler cardiofacial syndrome, charge association, DiGeorge syndrome, Shprintzen syndrome, velocardiofacial syndrome.
Genetics: presence of an additional chromosome 22.
Deletion usually affects chromosome 22q11.
Incidence: 3-5% of all spontaneous abortions.
1. Craniofacial and neurologic manifestations:
Low set ears
Flat nasal bridge
2. Other manifestations