11.  Saethre-Chotzen

Answer:
Physical findings of the head: brachycephaly, maxillary hypoplasia, facial asymmetry, low frontal hairline, shallow orbits, hypertelorism, ptosis, minor ear anomalies, large fontanelles.

Associated physical findings: partial cutaneous syndactyly, brachydactyly, clinodactyly, slightly broad thumbs, simian creases, occasional cleft palate.

Genetic mode of transmission: autosomal dominant with variable expressivity.

Mental status: occasional mild mental retardation.

Timing of operation: ideally before 18 months, with correction of brachycephaly by frontal bone advancement and possible correction of facial and orbital anomalies.
 

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