X-LINKED, eye findings Flashcards
X-LINKED RECESSIVE SYNDROMES
MNEMONIC
CHAD’S KINKY WIFE GOT LUCKY
CHAD’S KINKY WIFE GOT LUCKY
Chronic granulomatous disease Hunters’ disease Anhidrotic ectodermal dysplasia Dyskeratosis congenita SCID
Menke’s Kinky hair disease Wiskott-Aldrich Ichthyosis, X-linked Fabry’s disease Ehler’s Danlos V and IX G6PD deficiency Lesch-Nyhan
• Chondrodysplasia punctata (Conradi-Hunermann
syndrome)
• CHILD syndrome
• Incontinentia Pigmenti
• Albright’s hereditary osteodystrophy
X-LINKED DOMINANT SYNDROMES
Focal Dermal Hypoplasia • Bazex syndrome • MIDAS syndrome • Oral-facial-digital syndrome • Goltz
X-LINKED DOMINANT SYNDROMES
XLD Disorders “GO CIA”
G oltz O ral Digital Facial C onradi-Hunerman, CHILD I P A lbright's hereditary osteodystrophy
POEMS Syndrome
P olyneuropathy O rganomegaly E ndocrinopathy M protein (IgG paraproteinemia) S kin (multiple, especially glomeruloid hemangioma
Sister Chromatid Exchange
“Baby chromatids die frequently”
B loom
C ockayne
D yskeratosis congenita
F anconi
Porphyrias
“All Epstein pearls have violaceous edges” for Disease
A IP E P P CT (HEP) H CP V P E PP
Hay Wells/ AEC
A nkyloblepharon
E ctodermal defects
C left lip/palat
Tuberous Sclerosis Findings
S ebaceum, Adenoma C alicific CNS nodules L ymphangiomas, Pulmonary E pilepsy R etarded O ral papillomatosis S hagreen patch I (eye) hamartomas S ubungual fibromas (Koenen's)
NAME Syndrome
N evi, lentigines, freckles, blue nevi
A trial myxomas
M yxoid tumors of skin
E ndocrine abnormalities
LEOPARD Syndrome
L entigines E KG defects O cular hypertelorism P ulmonary stenosis A bnormal genitalia (hypoplastic) R etarded growth D eafness, neural
“LaRSSON”
L amellar/Lichenified-like ichthyosis R etinal glistening dots S pastic diplegia/Seizures S hort stature O ligophonia N eurologic
CHIME Syndrome
C oloboma H eart defects I chthyosis M ental retardation E ar anomalies
Birt-Hogg-Dube
F-PART
F ibrofolliculomas P neumothorax A chrocordons R enal cell CA T richodiscomas
Lens Displacement
• ___Marfan’s
Upward with
Lens Displacement
___homocystinuria
Downward with
• Normal • Ichthyosis – NB-CIE – Lamellar – Netherton • Harlequin fetus • Gaucher’s
Colloidian Baby
- Tay-Sachs
- Niemann-Pick
- Sialidosis • Sandhoff
Cherry Red Spots
Angioid streaks (rupture of Bruch’s membrane)
Pseudoxanthoma elasticum
Ankyloblepharon
CHANDS, Hay-Wells syndrome
Atypical retinitis pigmentosa (glistening dot)
Sjogren-Larsson
Blue sclerae
Osteogenesis imperfecta types 1, 2, and 3;
Ehlers-Danlos syndrome
Blue sclerae, retinal detachment, ruptured globe,keratoconus
Ehlers-Danlos syndrome type 6
