Signs / Symptoms (18)
Craniofacial |
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Flat midface |
Macrocephaly |
Growth |
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Dwarfism, micromelic |
Intrauterine development |
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Polyhydramnios |
Stillborn or lethal in the neonatal period |
Limbs Abnormality |
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Brachydactyly |
Precociously ossified carpal bones |
Oral |
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Cleft palate |
Skeletal |
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Dumbbell-shaped short long bones |
Flat acetabular roofs |
Hypoplastic scapulae |
Metaphyseal irregularities |
Narrow chest |
Round vertebral bodies |
Sacral stenosis |
Short neck |
Short, splayed ribs |
Snail-shaped ilia |