Genitopatellar syndrome
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(absent patellae-scrotal hypoplasia-renal abnormalities-facial dysmorphy-intellectual deficit)
Prevalence < 1/106. Autosomal recessive or dominant transmission of a mutation of gene KAT6B on 10q22.2.
Association of:
- absence or hypoplasia of the patellae
- genital anomalies: hypoplasic scrotum and cryptorchidism in boys, hypoplasia of labia minora and anteposition of anus in girls
- dysmorphic facial features: coarse face, broad nose, microcephaly
- kidney abnormalities: polycystic kidneys or hydronephrosis
- contractures of the lower limbs, club feet
- intellectual deficit (agenesis of the corpus callosum, neuronal migration abnormalities)
Sometimes heart defect.
Poor prognosis.
Anesthetic implications:
check renal function; echocardiography; management of a polyhandicapped child
References :
Updated: October 2016