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.