Living patients present with short stature; disease
involves chest (narrow thorax, short, horizontal ribs with bulbous and irregular
ends) with pulmonary insufficiency (lung hypoplasia, restrictive syndrome,
recurrent respiratory infections). Approximately 70% die from respiratory
failure in infancy or early childhood; skeletal (lacunar skull, small pelvis with
trident acetabular roofs, sciatic notch spur, irregular metaphyses and
epiphyses, short long bones, cone-shaped epiphyses and polydactyly), GI
(hepatic and pancreatic fibrosis, polycystic liver and pancreas disease,
bile duct proliferation), and genitourinary (Potter type IV polycystic kidneys, chronic
nephritis, and renal failure). Retinal degeneration is frequent.
Hydrocephalus, cleft lip/palate, and scalp defect can be observed.