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PLENO TUTORIAL 4“DOWN SYNDROME”Kelompok 3Ketua : Tirza Glady R.Scriber atas : Nofyanti T.Scriber bawah : Putu WahyuAnggota : Eileen Euides Angriana Himran Handry Baso P.M. Linda Mutiah Amelia Tiro Nurul Syafitrah Fandy P.Andilolo Ita Indah Agustini
Skenario Problems Learning Objectives Main Map Referensi
Tutor: dr. Vera dr. Haerani
Down SyndromeA 11 years old boy is brought by his mother to pediatrician due to late develompment. The doctor explains that he is likely to have trisomy (down)21 syndrome. The result of his physical examination are:General AbnormalitiesHypotonia will tendency to keep month open and protrude the tongue; diastasis recti,flat facies and slanted palpebral fissure.Special abnormalitiesCranofacial : brachycephaly,mild microcephaly, hypoplasia to aplasia frontal sinusDentition : hypoplasia,irregular placement, fewer cariesManus : short metacarpals and phalanges, hypoplasia or midphalanx of fifth finger,Simian crease
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Down SyndromeA 11 years old boy is brought by his mother to pediatrician due to late develompment. The doctor explains that he is likely to have trisomy (down)21 syndrome. The result of his physical examination are:General AbnormalitiesHypotonia will tendency to keep month open and protrude the tongue; diastasis recti,flat facies and slanted palpebral fissure.Special abnormalitiesCranofacial : brachycephaly,mild microcephaly, hypoplasia to aplasia frontal sinusDentition : hypoplasia,irregular placement, fewer cariesManus : short metacarpals and phalanges, hypoplasia or midphalanx of fifth finger,Simian crease
Adanya kromosom tambahan ketiga dengan tipe yang sama
pada sel yang seharusnya diploid
Down SyndromeA 11 years old boy is brought by his mother to pediatrician due to late develompment. The doctor explains that he is likely to have trisomy (down)21 syndrome. The result of his physical examination are:General AbnormalitiesHypotonia will tendency to keep month open and protrude the tongue; diastasis recti,flat facies and slanted palpebral fissure.Special abnormalitiesCranofacial : brachycephaly,mild microcephaly, hypoplasia to aplasia frontal sinusDentition : hypoplasia,irregular placement, fewer cariesManus : short metacarpals and phalanges, hypoplasia or midphalanx of fifth finger,Simian crease
Penurunan tonus otot rangka
Down SyndromeA 11 years old boy is brought by his mother to pediatrician due to late develompment. The doctor explains that he is likely to have trisomy (down)21 syndrome. The result of his physical examination are:General AbnormalitiesHypotonia will tendency to keep month open and protrude the tongue; diastasis recti,flat facies and slanted palpebral fissure.Special abnormalitiesCranofacial : brachycephaly,mild microcephaly, hypoplasia to aplasia frontal sinusDentition : hypoplasia,irregular placement, fewer cariesManus : short metacarpals and phalanges, hypoplasia or midphalanx of fifth finger,Simian crease
Pemisahan sisi kanan dan kiri pada otot rektus abdominalis
Down SyndromeA 11 years old boy is brought by his mother to pediatrician due to late develompment. The doctor explains that he is likely to have trisomy (down)21 syndrome. The result of his physical examination are:General AbnormalitiesHypotonia will tendency to keep month open and protrude the tongue; diastasis recti,flat facies and slanted palpebral fissure.Special abnormalitiesCranofacial : brachycephaly,mild microcephaly, hypoplasia to aplasia frontal sinusDentition : hypoplasia,irregular placement, fewer cariesManus : short metacarpals and phalanges, hypoplasia or midphalanx of fifth finger,Simian crease
Berhubungan dengan kelopak mata
Down SyndromeA 11 years old boy is brought by his mother to pediatrician due to late develompment. The doctor explains that he is likely to have trisomy (down)21 syndrome. The result of his physical examination are:General AbnormalitiesHypotonia will tendency to keep month open and protrude the tongue; diastasis recti,flat facies and slanted palpebral fissure.Special abnormalitiesCranofacial : brachycephaly,mild microcephaly, hypoplasia to aplasia frontal sinusDentition : hypoplasia,irregular placement, fewer cariesManus : short metacarpals and phalanges, hypoplasia or midphalanx of fifth finger,Simian crease
Keadaan kepala yang pendek dan
lebar
Down SyndromeA 11 years old boy is brought by his mother to pediatrician due to late develompment. The doctor explains that he is likely to have trisomy (down)21 syndrome. The result of his physical examination are:General AbnormalitiesHypotonia will tendency to keep month open and protrude the tongue; diastasis recti,flat facies and slanted palpebral fissure.Special abnormalitiesCranofacial : brachycephaly,mild microcephaly, hypoplasia to aplasia frontal sinusDentition : hypoplasia,irregular placement, fewer cariesManus : short metacarpals and phalanges, hypoplasia or midphalanx of fifth finger,Simian crease
Keadaan yang ukurannya lebih kecil karena perkembangan yang tidak sempurna
Down SyndromeA 11 years old boy is brought by his mother to pediatrician due to late develompment. The doctor explains that he is likely to have trisomy (down)21 syndrome. The result of his physical examination are:General AbnormalitiesHypotonia will tendency to keep month open and protrude the tongue; diastasis recti,flat facies and slanted palpebral fissure.Special abnormalitiesCranofacial : brachycephaly,mild microcephaly, hypoplasia to aplasia frontal sinusDentition : hypoplasia,irregular placement, fewer cariesManus : short metacarpals and phalanges, hypoplasia or midphalanx of fifth finger,Simian crease
Alur palmaris transversal tunggal yang dibentuk oleh fusi alur
palmaris proksimal dan distal
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Kaki
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Jari kaki
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Kulit
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Bintik-bintik sementara pada kulit
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Alat reproduksi
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Suatu gerak cepat involuntar dari bola
mata
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Penonjolan berbentuk kerucut pada tengah
kornea
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Kekeruhan pada lensa mata
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Berkenaan dengan atlas dan axis
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Defek perkembangan, ditandai dengan testis
turun
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Anomali tangan kongential, ditandai dengan menetapnya selaput diantara
jari-jari yang berdekatan, sehingga jari-jari sedikit banyak melekat secara
lengkap
Pedis : wide gap between first and second toes,
plantar crease between first and second
toes. Open field dermal ridge patterning in
hallucal area of sole.
Dermis : cutis marmorata especially in extremities,
hyperkeratic skin
Genitalia : relatively small penis and hypogonadism.
Occasional abnormalities:
Nystagmus,keratoconus, cataract, low placement of ear;atlantoaxial instability, cryptorchidism, syndactyly, and dysplasia of pelvis.
(Adapted from:Smith’s Recognizable Patterns of Human Malformation (Jones,1988))
Kelainan perkembangan
PROBLEMS
1. Why at age 11 years, the new note down syndrome child is exposed?
2. The factors that cause people with slow growing?
3. The types of Down syndrome?
4. The characteristics of Down syndrome?
5. Definition of down syndrome
6. What percentage of hereditary factors affecting the down syndrome? 7. Pathophysiology of Down syndrome? 8. How to prevent down syndrome?9. Complications of Down syndrome?10. management of Down
syndrome?
Learning Objective1. Why at age 11 years, the new note down
syndrome child is exposed?2. What percentage of hereditary factors
affecting the down syndrome?3. Pathophysiology of Down syndrome?4. Complications of Down syndrome?
MAIN MAPSyndrom
DownDefinition
Patofisiologi
clinical manifestatio
ns
complication
management
prevention
Etiologi
Down syndrome is a chromosomal abnormality that is excess of chromosome 21 (Trisomy 21) is characterized by slow growing.
Definition
Etiologi
1. Non-disjunction, 95% of patients with SD is caused by non-disjunction, there should be a pair of chromosomes on chromosome 21, but due to chromosomal non-disjunction with SD cromosom 21 totaling 3
2. Translocation, 3-4% of patients with SD is caused by translocation, namely the long arm of chromosome attachment to the arm of another chromosome, for example, to chromosome 15 3. Mozaikisme, 1-2% of patients caused by mozaikisme SD, ie the patient has an extra chromosome 21 in just a few cells.
PATOFISIOLOGI
Specific cause is unknown, but pregnant women aged over 35 years at high risk of having Down syndrome child.
clinical manifestations• Hypotonia• Diastasis recti• Hypoplasia • Fewer caries• Branchycephaly• Simian Crease
• Syndactily• Cutis marmorata• Dysplasia of pelvis• Ceratoconus• Crypogonadism• Nystagmus
complicatinheart kongentialAlzheimer'sLeukemiahearing lossImpaired visionImpaired thyroid function
management
• Handling medically:Hearing, vision
regularly. giving nutrition radiological
examination
• Pendidikan: Special education
(SLB),Outreach to parents
PREVENTION
SCREENING TESTS,
DIAGNOSTIC TESTS
Screening tests estimate the risk that fetal Down syndrome
Accurate diagnostic tests to determine the Down syndrome and other chromosomal abnormalities
Referensi
Kumala Poppy, 1998, Kamus Kedokteran Dorland, EGC, JakartaBrakhthavalsala Shyam, 2008, Crash Course Pediatrics,Edisi ketiga,Mosby Elsevier, United Kingdom.Stead Matthew, 2006, First Aid for the Pediatrics clerkship,Mc.Graw Hill,New York. http://www.ndss.org/index.php?option=com_content&view=arti
cle&id=155%3Anews&catid=54%3Apublic-relations&Itemid=140&limitstart=2, accessed on November 23th 2011
http://www.bmj.com, accessed on November 23th 2011http://www.emedicine.com, accessed on November 23th 2011http://www.kidshealth.com, accessed on November 23th 2011
Pertanyaan:1. 2.3.