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Patau syndrome
- trisomy 13; congenital heart defects, deafness, rocker-bottom feet and severe learning disabilities.
- intrauterine growth retardation with facial clefts, ocular anomalies, and polydactyly.
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Edward's Syndrome
- low serum alpha-fetoprotein (AFP), unconjugated oestriol and hCG on amnio
- trisomy 18. intrauterine growth restriction and a single umbilical artery.
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Angelman syndrome
Deletaion of maternal 15q12= Happy puppet. delayed speech, ataxia with a broad based gait, epilepsy. Strange affect characterised by inappropriate laughter.
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Prader-Willi syndrome
- Deletion of paternal 15q12
- mental retardation and hyperphagia
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Noonan syndrome
- 12q24.1 defect
- Pulmonary stenosis
- Delayed puberty, short stature
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Williams Syndrome
Pulmonary stenosis
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Marfarn's syndrome
autosomal dominant, in about 25% it is the result of spontaneous mutations; anterior subluxation of the lens is a feature.
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Di George
- 4th branchial arch
- 22q11.2
- facial hypoplasia
- thymic hyoplasia=decreased t cell number and function
- parathyroid hypoplasia= hypocalcaemic tetany
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Beckwith-Wiedemann syndrome
- Macrosomia
- Macroglossia
- Visceromegaly
- Omphalocoele
- Transverse creases on the ear lobes.
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Potter's syndrome
Results from renal agenesis. Classical features include:
- Pulmonary hypoplasia
- Limb contractures
- Typical facies with the baby having low set ears, flattened nose and epicanthic folds
- clubbed feet
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Bloom's syndrome
photosensitivity and an increased risk of malignancy.
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Lowe's syndrome
- oculocerebrorenal syndrome; X linked:
- -Severe learning difficulties
- -Cataracts
- -Glaucoma
- -renal tubulopathy.
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Fragile X
- Large ears and big testicles
- Prognathism
- The face is typically long and narrow, with a high arched palate
- In children: motor and speech delays and funny sounds hyperactivity
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PKU
- Diagnosis of classic PKU requires:
- -Raised phenylalanine (Phe) levels
- -Normal plasma tyrosine levels
- -Increased urinary Phe metabolites
- -Normal cofactor (tetrahydrobiopterin) concentrations.
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PKU
Phenylalanine hydroxylase deficinency (#12)
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