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LEOPARD syndrome:
Autosomal dominant includes :
Lentigines , multiple 1-5 mm in size (benign dark brown macules )
ECG abnormalities (prolonged P-R , abnormal QRS , abnormal P waves)
Ocular hypertelorism
Pulmonic stenosis
Abnormal genitalia – hypogonadism , cryptorchidism
Retarded growth
Deafness
Autosomal dominant includes :
Lentigines , multiple 1-5 mm in size (benign dark brown macules )
ECG abnormalities (prolonged P-R , abnormal QRS , abnormal P waves)
Ocular hypertelorism
Pulmonic stenosis
Abnormal genitalia – hypogonadism , cryptorchidism
Retarded growth
Deafness
متلازمة ليبوبارد:
تنتقل بشكل جسدي سائد -تتضمن :
بقع سوداء بنية حميدة 1-5 ملم بالحجم ومتعدددة
اضطرابات بتخطيط القلب الكهربائي (تطاول PR وQRS شاذ وP شاذة (
تباعد عينين
تضيق رئوي
اعضاء جنسية شاذة - اختفاء خصية - نقص تطور الاقناد
نقص نمو
صمم
المرجع
Kaplan pediatrics
Fri, 2008-09-12 01:27
qusei
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طفل معه متلازمة ليوبارد :
1. lentigines with 2 of above criteria
or
2. without lentigines but 3 of above criteria with 1st degree relative with confirmed diagnosis
intresting thing u might notice when u stretch their skin sometimes u might notice hyperelasticity
sometimes even interdigital webbing
i remember once i was walking in a mall
i saw a kid he was approx 3 or 4 years i guess
i noticed 3 things : his nose was anteverted and his hair was a widow peaked with this hypertelorism
i doubted agar scott syndrome
i WISHED deeply if i could get a close look to his palm cuz i remember they were lyk down's syndrome with one crease but he was so busy eating his chocolate
anyway , i didnt see any MR signs so i am not sure
if u concentrate in every mall or shop visit am sure u will find a nice case
once i saw a cerebellar gait
it was so CLEAR
the guy was lyk walking on wide base step , looking down and from side to side
it was SO intresting to see it practically
http://emedicine.medscape.com/article/1096445-media