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By: Majid Mojarrad.  incidence of 1/10,000 to 1/30,000  Deletion of maternal 15q11-13  Maternal Uniparental disomy of 15q11-13  Severe mental retardation.

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Presentation on theme: "By: Majid Mojarrad.  incidence of 1/10,000 to 1/30,000  Deletion of maternal 15q11-13  Maternal Uniparental disomy of 15q11-13  Severe mental retardation."— Presentation transcript:

1 By: Majid Mojarrad

2  incidence of 1/10,000 to 1/30,000  Deletion of maternal 15q11-13  Maternal Uniparental disomy of 15q11-13  Severe mental retardation  Severe speech impairment  Delayed development by 6–12 months of age  Receptive language skills  Nonverbal communication

3  balance disorder ◦ unstable and jerky movements ◦ gait ataxia ◦ tremulous movements of the limbs

4  Happy  Excited  Active  Short attention span  “Happy Puppet” syndrome

5  Normal newborn phenotype  Developmental delay ◦ Starting around 6 months of age ◦ Eventually classified as severe developmental delay and/or mental retardation ◦ Profound speech impairment ◦ Absent or minimal use of words ◦ Receptive and nonverbal communication skills  Movement or balance disorder ◦ Abnormal ataxic gait ◦ Puppet-like jerky movements of limbs ◦ Hand flapping movement

6  Seizure  Abnormal EEG  Strabismus  Wide mouth  Widely spaced teeth  Frequent drooling  Swallowing disorder  Feeding problems during infancy  Hypopigmented skin  Light hair and eye color,

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8  Deletion of normally active paternally inherited genes at chromosome 15q11-q13  neurogenetic disorder characterized by: ◦ Hypotonia ◦ feeding difficulties in infancy  Followed by ◦ Hyperphagia ◦ Hypogonadism ◦ mental retardation ◦ Short stature  It was the first recognized microdeletion syndrome identified with high-resolution chromosome analysis  incidence of Prader-Willi syndrome is approximately 1/10,000 to 1/15,000 individuals

9  Neonatal presentation ◦ Central hypotonia in infancy ◦ Poor feeding/sucking ◦ Poor weight gain (failure to thrive) ◦ Genital hypoplasia/hypogonadism ◦ Diminished deep tendon reflexes ◦ Abnormal squeaky weak cry ◦ History of fetal inactivity (in utero hypotonia)

10  Developmental delay  Mild dysmorphic features ◦ Almond-shaped eyes ◦ Dolichocephaly ◦ Narrow bifrontal diameter ◦ Narrow nasal bridge ◦ Small mandible ◦ Small mouth ◦ High-arched palate ◦ Down-turned lips ◦ Thick viscous saliva  Speech articulation defects

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12  relatively common genetic disorder  1 in 4000 live births  Variable phenotype ◦ velocardiofacial syndrome ◦ DiGeorge syndrome ◦ Takao syndrome ◦ Cayler craniofacial syndrome

13  congenital heart defects  palate abnormalities  aplasia or hypoplasia of the thymus  small or absent parathyroid glands  distinct facial features  immune problems  learning disabilities  other abnormalities  speech abnormalities  congnitive difficulties

14  failure to thrive  feeding problems due to their palate abnormalities  Gastroesophageal reflux  vomiting problems  Generalized growth problems  Short stature  specific learning disabilities  developmental delay

15  higher rates of: ◦ bipolar affective disorder ◦ manic-depressive illness ◦ Schizoaffective disorder ◦ Depression ◦ Mild mental retardation ◦ attention deficit hyperactivity disorder

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17  Martin-Bell syndrome  Most common form of inherited mental retardation  about one in 4,000 to one in 6,250 males  Three nucleotide repeat expansion (CGG)  developmental delay  variable levels of mental retardation  behavioral and emotional difficulties

18  Long face  Prominent forehead  Prominent/long ears  Prominent jaw

19  Delayed developmental milestones  Mild to severe mental retardation  Difficulty with: ◦ abstract thinking ◦ Sequential processing ◦ Mathematics ◦ short-term memory ◦ visual motor coordination  Seizures

20  Hyperextensible finger joints  Double-jointed thumbs  Flat feet  High-arched palate  Mitral valve prolapse (55%, diagnosed by echocardiography)  Dilatation of the ascending aorta  Inguinal hernia  Soft skin

21  Poor eye contact (excessive shyness)  Attention-deficit/hyperactivity disorder  Hyperactivity  Speech disorder  Echolalia  Autism  Autistic-like features  Schizotypal personality disorder  Anxiety disorder

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24  congenital condition associated with abnormalities of the head and the bones of the spinal column  one of every 3,000 to 5,000 live births  Males are affected more frequently than females  abnormalities are typically limited to the face and vertebrae

25  Can be bilateral or unilateral  Hemifacial microsomia  Ocular manifestations ◦ Unilateral microphthalmia ◦ Strabismus ◦ Optic nerve hypoplasia ◦ Macular hypoplasia ◦ Microphthalmia ◦ Anophthalmia

26  Ear anomalies ◦ Microtia ◦ Preauricular tags and/or pits ◦ Middle ear anomaly ◦ Inner ear defects ◦ Variable deafness  Vertebral defects ◦ Hemivertebrae ◦ Hypoplasia of vertebrae, usually cervical ◦ Abnormal ribs ◦ scoliosis

27  Craniofacial features ◦ Cranial nerve palsy ◦ Cleft lip/palate ◦ Malfunction of soft palate ◦ Decreased parotid secretion ◦ Anomalies in function or structure of the tongue ◦ Low scalp hair line

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29  Rare X-linked recessive disorder ( Xq26.1)  Congenital cataracts  mental retardation  Generalized aminoaciduria  New mutations in 31.6% of affected males  Germline mosaicism in 4.5%

30  Eye abnormalities ◦ Congenital cataracts (the hallmark of the disease)  Developed prenatally  Always present prior to birth ◦ Congenital glaucoma ◦ Microphthalmos ◦ Nystagmus ◦ Decreased visual acuity (blindness)

31  Neonatal/infantile hypotonia  Delay in motor milestones  Cognitive impairment  Areflexia by one year of age  Mental retardation (common but not cardinal feature)  Seizures  Neuropathologic and neuroimaging abnormalities  Self injury

32  Secondary consequences of hypotonia, renal tubular acidosis, and/or hypophosphatemia ◦ Short stature ◦ Joint hypermobility ◦ Dislocated hips ◦ Scoliosis ◦ Kyphosis ◦ Fractures

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35  Progressive myopia, retinal detachment and blindness, and premature degenerative changes in various joints  autosomal dominant with wide variation in expression  locus and allelic heterogeneity  COL2A1 gene mutations: Chr12q13.11-q13.2

36  Hearing impairment  Normal intelligence  Facial bone hypoplasia ◦ Flat midface ◦ Depressed nasal bridge ◦ Maxillary hypoplasia ◦ Mandibular hypoplasia ◦ High arched/cleft palate ◦ Abnormal teeth  Joint hyperextensibility  Enlarged joints

37  Long fingers  Scoliosis  Hip dislocation  Relative muscle hypoplasia  Premature osteoarthritis

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