Syndromes Associated with ... Flashcards
1
Q
Proportionate short stature
A
Arskog Bloom CFC Cockayne Coffin-Sirus Costello Cornelia De Lange Dubowitz Fanconi anemia Floating Harbor Hallerman- Streiff Johnson-Blizzard Kabuki Noonan Opitz Progeria Robinow Rubenstein-Taybi Russell-Silver Seckel SHORT Smith-Lemli-Opitz Werner Williams
2
Q
Disproportionate short stature with short limbs
A
Achondrogenesis Achondroplasia Acromesomelic dysplasia Acromelic dysplasia Campomelic dysplasia Ellis-van Creveld Fibrochondrogenesis Frontometaphyseal dysplasia Jeune thoracic dystrophy Kneist dysplasia Metaphyseal dysplasia Rhizomelic chrondroplasa punctata
3
Q
Disproportionate short stature with short trunk
A
Spondyloepiphyseal dysplasias
Spondylomethaphyseal dysplasias
4
Q
Obesity
A
Bardet-Biedl Prader-Willi McCune-Albright hereditary osteodystrophy Smith-Magenis Alstrom Carpenter Cohen syndrome Fragile X
5
Q
Tall stature
A
Congenital contractural arachnodactyly (Beals) Marfan Loeys-Dietz Triple X syndrome Klinefelter Homocystinuria Lujan-Fryns Trisomy 8 mosaicism
6
Q
Asymmetry with Hemihyperplasia
A
Beckwith-Wiedemann Klippel-Trenauy-Weber Neurofibromatosis Langer-Giedion Endocondromatosis Maffuci McCune-Albright Proteus Epidermal nevus
7
Q
Asymmetry with Hemihypoplasia
A
Russell-Silver Poland Hemifacial microsomia CHILD Focal dermal hypoplasia Hypoglossia-hypodactyly syndrome
8
Q
Asymmetry with Hemiatrophy
A
Parry Romberg
Dyke Davidoff Masson
Sturge Weber
Incontienta pigmenti
9
Q
Hirschsprung Disease
A
Bardet-Biedl Cartilage-Hair Hypoplasia Congenital Central Hypoventilation Syndrome Familial dysautonomia Fryns syndrome Goldberg-Sphritzen L1 syndrome Mowatt-Wilson MEN2 NF1 Pitt-Hopkins Smith Lemli Opitz Waardenburg Shah
10
Q
All of the following are DSDs associated with an 46, XY karyotype and phenotypic female EXCEPT:
- SRY mutation
- SOX9 mutation
- SRY translocation to X chromosome
- DAX1 duplication
A
=SRY translocation to X chromosome (46, XX with male phenotype –ovotesticular)
11
Q
All of the following DSDs are associated with a 46, XX karyotype and a phenotypic male EXCEPT:
- SRY translocated to X chromosome
- SOX3 duplication
- SOX 9 duplication
- DAX1 duplication
A
=DAX1 duplication (46, XY with female phenotypic female features)
