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Dysmorphology
Common Genetic Syndromes
| Question | Answer |
|---|---|
| Child is born appearing to have macroglossia. They are found to have a u shaped cleft palate. In retrospect they have micrognathia, and a high arched palate. | robin sequence |
| Child presents with joint pain and eye problems. They have myopia and a history of retinal detachment. They have a flat face and prominent eyes. | stickler syndrome |
| Child presents at birth with hypotonia. The tongue is protruding. The eyes have brushfield spots, and they have downslanting palpebral fissures. They are also seen to have a transverse palmar crease. A VSD is found on echo. | Down syndrome |
| Child presents with stellate pattern in eyes. They have full lips and are very outgoing when you come into the room. They have documented supravalvular aortic stenosis. They also have joint hypermobility. | Williams syndrome |
| Child presents with macrosomia at birth. They have macrocephaly, prominent forehead, downslanting palpebral fissures. X-rays reveal advanced bone age. The parents report the teeth came in early. | Sotos syndrome |
| Child presents with downward slanting palpebral fissures , madibular hypoplasia. Lower lid coloboma, and projection of scalp hair onto cheek. They have a cleft palate | Treacher Collins syndrome |
| Child presents with short stature, small hands and feed. Was severly hypotonic as neonate with weak suck and general feeding problems. previous evidence of developmental delay, but child is now meeting milestones. | Prader-Willi syndrome |
| Child presents with severe mental deficiency, ataxia and jerky movements, and low to no verbal communication. Child is generally excitable. Parents report a history of seizures which have since resolved. | Angelman syndrome |
| Boy presents in clinic with autism-like tendencies, hypersensativity, and hyperactivity. child is generally hypotonic and has an IQ of about 50. Child is generally shy and anxious but is affectionate. | Fragile X male |
| Boy presents with easy bruising and joint pain. You notice he is very thin, and there is some scarring on his legs. He says he can do tricks with his skin. | Ehlers Danlos |
| A newborn has bilateral hip dislocations. | Ehlers Danlos- Arthroclasia type |
| Suspected EDS has translucent skin and visible superficial vasculature | EDS vascular type |
| Social worker brings in child who has sustained fractures in the past year. Abuse is suspected. you notice child has inverted triangular face, bad teeth and blueish sclera, and short stature. | Osteogenesis Imperfecta |
| Child comes in with short stature. You notice a broad chest with superior pectus carinatum and inferior pectus excavatum. Also, there is a history of congenital heart defect. You see webbed neck, face lacks affect, pinched nasal bridge, and curly hair. | Noonan Syndrome |
| Smooth philtrum, short palpebral fissures, thin vermilion border of upper lip. | FAS |
| Child with hypertelorism, upturned nose, distal hypoplasia of fingers and toes. | Fetal Hydantoin syndrome |
| Female child presents with short stature, examination shows low posterior hairline, broad neck, and hyper-convex nails. | Turner syndrome (45X) |
| male child presents with slightly feminized physique, hypogonadism, hypogenitalism | Klinefelter syndrome (47XXY) |
| male child presents with tall stature, aberrant behavior, and slight learning disability, has normal IQ. | 47 XYY |
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UAMSgenetics
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