Turner syndrome 45xo
Female ➡️سمينه وقصيره 😂عشان تذكروها
Imp note
* normal IQ no MR
* Risk no related to maternal age
May be cystic hygroma
Edema in neck ,hand ,and feet
Webbing neck,low posterior hair line عكس down
Wide carrying angles b/w arm and forearm ( cubitus valgus )
10% scoliosis
Wide space nipple
Shield chest كيف الدرع
CHD ➡️ Bicusped aortic valve most common
COA
Renal anomiles ,horseshoe kidney 30%
Ovarian dysgenesis
Delayed puberty
Amenorrhea no breast enlarged but pubic hair normal
infertility
High LH,FSH
DM and hypothyroidism
Cafe olait spot( pigment moles)
Treatment
.GH therapy FOR short stature
. Estrogen replacement for development secondary sexual characteristics at time puberty
But infertility persist
*** the presence Y chromosome increaserisk gonadoblastoma

Noonan syndrome
AD gene and karyotyping is normal**** both male and female affected
C/P downvslanting eye
Short stature
Short webbing neck, pectus excavatum
mild learning difficulties 30%
CHD ➡️ pulmonary stenosis most common and HOCM
Small testes,undescended testes,delayed puberty and bleeding tendency

Fragile X syndrome x linked resceeve
وجه طويل ورأسه كبير ووذانه كبار😅*
2nd common MR after down
يتميز ب joint laxity بسببه فاز سباح امريكي***
Macrocephaly
Macroorchidism large testes **
Long face ,large everted ear
Broad forehead
Mitral valve prolapse ,joint laxity
Autism,hyperactivity

Angelman syndrome defect chromosome 15 microdelection
سيندروم الضحكة المستمرة😀
Happy syndrome ✨

Sever MR
Wide space teeth
Fair hair اشقر
Large open mouth
Pronounced mandible واضح
Speech impairment
Seizure

in child hyperphagia + obesity

Beckwith wiedeman syndrome
كل حاجه فيه Large
ماعدا head and genitalia
Macrosomia large baby
Macroglossia
Mega organ
اهم نقطتين
*** mega kidney risk to wilms tumor
***mega insulin ➡️hyperinsulinema ➡️cause hypoglycemia *
small genitalia and head
Transverse ear creases

Thumb sign (Steinberg)

Wrist sign (walker-murdochsign)

Murfan syndrome inhereted CTD(Tall syndrome)✨✨
AD 30% New mutation
C/P (SOSPO)
S skeletal tall bone
Span اكثر من height
Wrist sign walker-murdoch sign
Thumb sign Steinberg
O ocular
Ectopic lentis super+temporal
Upward and laterally عكس homocystin urea ➡️ lens down word medically
S skin ➡️ striae
Recurrent hernia
P pulmonary ➡️ spontaneous pneumothorax
C cvs ➡️ mitral valve prolapse
Aortic dissection

AD
Failure of development 3rd and 4th pharyngeal arch

Alagille syndrome
المشكله اغلبها في liver
سيندروم اختصارا P
Paucity in biliary duct ➡️ direct jaundice + pruritus
Peripheral pulmonary stenosis
Prominent forehead
Butterfly like vertebra

سيندروم العفريت👻
Microdelection 7q 11.23
اختصار سيندروم S
Short stature
Elfin face وجه العفريت👻
Super ca
Stupid intellectual disability is common
Stellate iris
Squint
Supra valvular AS

Most common chromosomal disorder associated with male hypogonadism and infertility
Karyotyping47xxy

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