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01 Xanthelasma
There are well demarcated, yellow plaques on the medial aspect of the bilateral eyelids, which is consistent with xanthelasma.
Xanthelasma consists of cutaneous lipid deposits and is a common finding in patients with hypercholesterolemia | 2 839 | 16 | Loading... |
02 Cri-du-chat syndrome (cat cry syndrome)
Definition: rare syndrome caused by a chromosome 5 aberration [11][12]
Epidemiology: sex distribution: ♀ > ♂ (2:1)
Etiology: microdeletion of the short arm at chromosome 5 (46,XX,5p- or 46,XY, 5p‑)
Clinical features
Cat-like, high-pitched crying in affected infants
Congenital heart defects, e.g., VSD
Microcephaly
Intellectual disability (moderate to severe)
Single palmar crease
Dysmorphic facial features
Moon facies
Widely spaced eyes
Epicanthal folds
Broad nasal bridge
Downward-slanting palpebral fissures
Skeletal abnormalities | 2 004 | 9 | Loading... |
Photo unavailableShow in Telegram
Xanthelasma
There are well demarcated, yellow plaques on the medial aspect of the bilateral eyelids, which is consistent with xanthelasma.
Xanthelasma consists of cutaneous lipid deposits and is a common finding in patients with hypercholesterolemia
Photo unavailableShow in Telegram
Cri-du-chat syndrome (cat cry syndrome)
Definition: rare syndrome caused by a chromosome 5 aberration [11][12]
Epidemiology: sex distribution: ♀ > ♂ (2:1)
Etiology: microdeletion of the short arm at chromosome 5 (46,XX,5p- or 46,XY, 5p‑)
Clinical features
Cat-like, high-pitched crying in affected infants
Congenital heart defects, e.g., VSD
Microcephaly
Intellectual disability (moderate to severe)
Single palmar crease
Dysmorphic facial features
Moon facies
Widely spaced eyes
Epicanthal folds
Broad nasal bridge
Downward-slanting palpebral fissures
Skeletal abnormalities