Important genetic syndrome causing craniosynostosis:
(a) Crouzon syndrome: autosomal dominant; acrocephaly or brachycephaly due to bilateral coronal suture closure; proptosis due to underdeveloped orbit. Maxillary hypoplasia and hypertelorism are characteristic features.
(b) Apert syndrome: mostly sporadic; acrocephaly; syndactyle (2nd, 3rd and 4th fingers), mimics crouzon, except asymmetric face and less proptosis of eyes.
(c) Carpenter syndrome: autosomal recessive; clover leaf skull; syndactyle (hands and feet); mental retardation.
(d) Pfeiffer syndrome: mostly sporadic; conical head; widely spaced and prominent eyes; short and broad (thumb and toes)
(e) Chotzen syndrome: most comm only seen in genetic syndrome; autosomal dominant; ptosis eyelid; short fingers; syndactyle (2nd and 3rd fingers); and facial asymmetry.
The information shared by respectable Prof Dr Muhammad Younas are worthy learning for all the pediatric residents
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