Abstract
Cleft Hand or Split Hand Foot Malformation (SHFM) is a sequence of phenotypes, from a minor shortening of the central digit to a complete absence of the third ray and, in the most severe cases, absence of two, three or four rays. It is a rare but spectacular presentation usually involving both hands and feet. Inheritance is primarily autosomal dominant but sporadic cases are also reported, resulting from a de novo mutation/deletion/duplication. Intra-familial clinical variability is the rule, with incomplete penetrance. X-linked or autosomal recessive inheritance has also been described. To date, seven subgroups of SHFM have been identified and seven loci are currently known. Anatomical records have enhanced our knowledge of this group of disorders of the hands and feet and allowed us to improve surgical procedures and long-term outcomes.
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Guéro, S. (2023). Cleft Hand or Split Hand Foot Malformation. In: Pajardi, G. (eds) Pediatric Hand Surgery. Springer, Cham. https://doi.org/10.1007/978-3-031-30984-7_11
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