4 Mai 1970 Jahr - Aarskog-Scott syndrome facio-digito-genital

Beschreibung:

major manifestations of this syndrome include

short stature
decreased bone age
craniofacial anomalies
hypertelorism
broad forehead
broad nasal bridge
short nose with anteverted nostrils
long philtrum
widow's peak hair anomaly
ear anomalies
ocular ophthalmic anomalies 2
optic nerve hypoplasia
retinal vessel tortuosity
deficient ocular elevation
hyperopia
anisometropia
limb abnormalities
short broad hands
brachydactyly
interdigital webbing
hypoplasia of the middle phalanges
proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints
flat broad feet with bulbous toes
genital anomalies
shawl scrotum
cryptorchidism
inguinal herniation
supernumerary ribs

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