Exostoses of bone with tendency for bone fracture
and variable growth, hyperextensible joints. Scoliosis may be present. Redundant skin.
Microcephaly, characteristic appearance with bulbous broad nose, bushy
eyebrows, sparse scalp hair, dental abnormalities. Mental retardation,
neonatal hypotonia, delayed speech development, hearing loss. Recurrent
respiratory infections. Prune-belly sequence. Ureteral reflux, persistent
cloaca, congenital nephrotic syndrome. Aplasia of epiglottis may be present.