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Individual differences |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |
Dysmorphic Features - Developmental Delay
- Introduce myself and counselor
- Explain role of counselor is supervisory
- Discuss the reason for referral
- Do you know why you are here today?
- Elicit prior knowledge
- Assess parental concerns
- Any further plans for children?
- I understand you had a previous child that was stillborn?
- Set goals for the session/overview what will happen
- Physical exam by Dr.
- Address parental concerns
- Discuss any further testing
- Arrange for follow up
Intake and Family History UpdateEdit
- Interim History
- Current medications
- Review of systems
- What he eats, how much, how often
- Rashes, birthmarks, dry skin
- Heart murmur, special heart tests (EKG)
- Hormone problems, diabetes, thyroid disease, weight gain or loss
- Kidney anomalies, renal ultrasound
- Muscle weakness, scoliosis, bone fractures
- Sinusitis, ear infection, hearing loss
- Temperament, sleeping patterns
- Diarrhea, constipation
- Allergy to food, medicine, etc.
- Visual problems, cataracts
- Seizures, brain abnormality
- Colds, infection, wheezing, pneumonia
- Bleeding disorders
- Recent tests and procedures
- Developmental Assessment
- Currently 1 year, 2 weeks old
- Skills for a 1 year old
- Pulls self to standing, may step with support
- Picks things up with thumb and one finger
- Stacks two blocks, gives toy on request
- Gives affection
- Follows simple directions accompanied by gestures
- May say 2 or 3 words
- Skills for a 9 month old
- Sits alone, changes position without falling
- Plays with 2 objects at the same time
- Says mama & baba
- Skills for 6 month old
- Sits with minimal support, rolls from back to stomach
- Transfers object from hand to hand and hand to mouth
- Babbles, more than 2 sounds
- Skills for 15 month old
- May walk without support
- Stacks 2 blocks
- Vocalized up and down like conversation; may say 4 or 5 words
- Some self-feeding
- Any early intervention programs?
- Psychosocial assessment
- Physical exam
- Height and weight?
- Input criteria using London Dysmorphology Database:
- Hypertelorism; posteriorly rotated ears; epicanthic folds; developmental delay
- Braegger: ischiadic hypoplasia; renal dysfunction; immunodeficiency
- Autosomal recessive
- Conductive hearing loss, intrauterine growth retardation, microcephaly, syndactyly
- Cardio-Facio-Cutaneous (CFC) syndrome
- Common features with Noonan syndrome
- Pulmonary stenosis is common
- Enlarged liver and spleen, mild to moderate mental retardation in 80%, macrocephaly, sparse, curly and/or slow-growing hair, lack of eyebrows and eyelashes, abnormal skin lesions varying from severe atopic dermatitis to hyperkeratosis/ichthyosis-like lesions
- Hypotonia, strabismus, brain anomalies including hydrocephalus, cortical atrophy, hypoplasia of frontal lobes and/or brain stem atrophy
- Farag: hypertelorism; hypospadias; tetralogy of Fallot
- Autosomal recessive
- Mental retardation, also other cardiac defects including PFO, PDA, and absent pulmonary valve
- Fetal Alcohol Syndrome
- Low birth-weight
- Hypotonia, microcephaly, FTT, smooth philtrum with a thin upper lip
- Cardiac lesions in 1/3 of cases: VSD is most common
- Hurst: congenital heart disease; choanal stenosis; short stature
- Autosomal recessive
- ASD and VSD; microcephaly, small nose, long philtrum, thin upper lip
- Morillo-Cucci: short stature, mental retardation; unusual face
- Hypertelorism, ptosis, myopia, strabismus, antimongoloid palpebral fissures
- Hyperextensible joints; bilateral 5th finger clinodactyly
- Multiple circumferential skin folds (Michelin baby)
- Autosomal dominant; heterogeneous condition.
- Marked annular skin creases on the limbs with underlying nevus lipomatosus
- Hemihypertorphy, CP can be seen, micrognathia, pectus excavatum, scoliosis, hypoplastic scrotum, and retractile testes.
- Multiple pterygium syndrome
- Autosomal dominant
- Ptosis, antimongoloid eye slant, scoliosis, camptodactyly, vertebral anomalies
- Small stature, cryptorchidism, normal intelligence
- Noonan syndrome (Turner-like syndrome)
- 1/1000 and 1/2300 live births
- Short stature, short neck with webbing, cardiac anomalies, characteristic chest deformity (pectus excavatum), widespaced nipples, characteristic facies, 35% mental retardation
- Cryptorchidism, pulmonic stenosis, bleeding disorders
- Polyhydramnios in 33% of cases and feeding difficulties in 75%
- Noonan-like/multiple giant cell lesion syndrome
- Cherubism and polyarticular pigmented villonodular synovitis
- Opitz-BBB syndrome
- X-linked and AD (indistinguishable clinically)
- Hypertelorism, hypospadias, CL/CP, imperforate anus (although rare), hypotonia
- Congenital heart defect, cryptorchidism, bifid scrotum, mental retardation
- Hernias, micrognathia, broad flat nasal bridge
- Pascual-Castroviejo: cerebro-facio-thoracic dysplasia
- Mental retardation, narrow forehead, bushy eyebrows, triangular-shaped mouth with downturned corners, short neck with low posterior hairline, brachycephaly, maxillary hypoplasia, and multiple skeletal anomalies.
- Pashayan: MR; truncal obesity, webbed neck, blepharophimosis
- Simple philtrum, thin upper lip, flat, broad nasal bridge, short stubby nasal tip, hypertelorism, developmental delay
- Glaucoma requiring enucleation.
- Pterygium colli-mental retardation-digital anomalies
- Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus, syndactyly of toes
- Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect
- Hypertelorism, downslanting palpebral fissures, low-set ears, postnatal growth retardation, cardiac defects, DD
- Rubinstein-Taybi syndrome
- Microcephaly, antimongoloid eye slant, hypertelorism, long eyelashes, milt ptosis, prominent and/or beaked nose with or without nasal septum extending below alae nasi (100%), thumbs are broad, occasionally bifid, cardiac defects in 25%, broad great toes in 100%, ear infections are common
- Sleep problems possibly due to sleep apnea, feeding difficulties are common
Summarize Major PointsEdit
Elicit Final QuestionsEdit
Arrange for Follow upEdit
- The family Village
- London Dysmorphology Database
- Smith's recognizable patterns of human malformation (1997) 5th Edition.
- Early Intervention Services: "A Guide to Your Child's Development" (1999)
The information in this outline was last updated in 2002.
This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.