| Popis: |
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 involving usually both hands and feet. Retrospective study of a single operator series on 51 patients over the past 30 years We used a new classification based on genetics. In each sub-group, report of the phenotypes and syndromes and of the mutations when available, with correlation of the anatomical findings. To date, seven sub-groups of SHFM have been identified and seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 at 2q31 and SHFM6 as a result of variants in WNT10B (chromosome 12q13). Duplications at 17p13.3 are seen in SHFM when isolated or associated with long bone deficiency. This new classification has allowed us improving genetic counseling. Inheritance is mostly autosomal dominant but sporadic cases without family history are commonly reported, resulting from a de novo mutation deletion duplication. Intra familial clinical variability is the rule, and penetrance can be incomplete. X-linked or autosomal recessive inheritance has also been described. Anatomical records enhanced our knowledge of these sub-group of disorders into the hands and feet, and surgical procedures (by removing additional tendons) and long-term outcome. This new classification of Split Hand Foot Malformations is of paramount importance for the hand surgeons treating these congenital malformations. |
Full Text from ScienceDirect