c2b_default

Sy --> DD

signe clin --> DD

signe clin --> DD

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D. J.
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D. J.
This flashcard set covers various differential diagnoses (DD) in medical genetics, focusing on syndromes and conditions associated with specific physical features and developmental issues. It includes conditions like polydactyly, syndactyly, cleft lip, and hypoplasia, as well as syndromes such as NF, TSC, and Peutz-Jeghers. The set is beneficial for medical students and professionals who need to quickly recall and differentiate between genetic syndromes based on clinical presentations.
Flashcards
7
Students
1
Language
English
Category
Medical
Level
Other
Created / Updated
30.11.2014 / 08.12.2014
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Flashcards

Developmental regression

--> DD ?

- Rett

- XL- ALD (X-linked Adrenoleucodystrophy)

- Tay-Sachs

- PEHO

- Aicardi-Goutieres

- mitochondriopathie

- NCL (Neuronal ceroid lipofuscinose)

- Sanfilippo

- Progressive myoclonic epilepsy

- métabolique

- autre...

Regression:  

 +

1) microcépahlie --> DD ?

2) macrocéphalie --> DD ?

3) hyperpigmentat° c/o garçon --> Dx?

4) engelure c/o fille--> Dx?

5) lymphocytose à la PL?

6) lactate élevé à la PL?

 

1) Rett? Cockayne?

2) Canavan? Alexander? Mal de stockage? MLC (=megalencephalic leucoencephalopathy with subcorical cysts)?

3) XL-Adrenoleucodystrophy

4) Aicardi-Goutieres

5) Aicardi-Goutières

6) mitochondriopathie

 

Ptose --> DD ?

- Mal mitochondriale (CPEO, MELAS, Kearns-Sayre)

- Dystrophie myotonique

- Myasthénie

- Myopathie oculo-pharyngée

- Fibrose congénitale des mm extraoculaires (AD ou AR)

- Aarskog

- NF1

- Noonan

- Saethre-Chotzen

- SLOS

- Dubowitz

- BPES

Flat nasal bridge --> DD ?

- Binder syndrome 

- Warfarin embryopathy (chondrodysplasie punctata + hypoplasie nasale + stippled epiphyses)

- Stickler syndrome ( +/- myopie, FP,  surdité, arthrose)

- ATR-X ( + RM, tenting of upper lip + evt hypoplasie OGE)

Hypoplasic ailes du nez --> DD ?

- Johanson-Blizzard  (+IUGR, scalp defect, insuff pancréatique exocrine (--> test elastase fécale)

- Oral-facial-digital type 1 (XLD) : ( excess oral frenulae + median cleft lip, langue lobulée, syndactylie, brachydactylie, post-axiale polydactylie)

- Oculodentodigital (AD): ( + microphtalmie, hypoplasie émail, syndactylie doigts 4-5, orteils 3-4)

- 2q37 deletion (= Albright like, car petite taille + brachymétaphalangie des doigts 3-5 + obésité + RM)

Bifid nasal tip --> DD ?

- Craniofrontonasal dysplasia: XL (les femmes sont atteintes, les hommes porteurs nele sont pas!)

- Opitz: XL ou AD (si sur 22q), + hypertélo, evt cleft laryngé, hypospadias

Oral-facial- digital type 2 (OFD2) (= sy de MOHR): AR, + syndactylie, post axial polydactylie des mains + préaxiale polydactylie des pieds + midline cleft lip + hamartomes de la langue)

maladie asso à des hamartomes --> ?

- NF

- TSC

- Peutz-Jeghers

- Cowden

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