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skos:definition |
MSH: An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed),JABL: A bulging skull with brachycephaly, beaked nose, cataracts, microphthalmia and receding chin giving the face its peculiar bird-like appearance. Associated defects include hypotrichosis, short stature, occasional mental deficiency and skeletal, hepatic, muscular, and renal anomalies.,NCI: A very rare syndrome characterized by multiple congenital abnormalities including abnormally shaped head, mandibular hypoplasia, parrot nose, bilateral congenital cataracts, microphthalmia, dwarfism and hypotrichosis.
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