Spilt Hand/Foot Malformation with Long-bone Deficiency (SHFMLD) is a rare heterogeneous group of limb malformations characterised by absence/hypoplasia and/or median cleft of hands and/or feet associated with long bone abnormalities, most frequently tibia. This case report described two sisters with congenital limb defects born to healthy consanguineous parents. The six-year-old girl did not had both radii and the left fibula. There was a cleft in the left hand and the right foot. She had one digit in her right upper limb, but did not have the left foot. The four-year-old girl had short four limbs, bilateral tibial aplasia with single digit in all limbs. Both parents were normal, and no other similar cases was reported in the family. According to the authors' best knowledge, these two cases are the first published cases in Yemen with the SHFMLD, but they need a genetic study to determine their genetic profile.
This chapter further discusses bone dysplasias and includes discussion on Al-Awadi Raas-Rothschild syndrome, Roberts/SC phocomelia syndrome, ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, split-hand/split-foot malformation with long bone deficiency (SHFLD), femoral-facial syndrome (FFS), femur-fibula-ulna syndrome, Poland syndrome, and Nager syndrome. Each discussion includes major radiographic features, major clinical findings, major radiographic features, genetics, major differential diagnoses, and a bibliography.
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype
