DOI: http://dx.doi.org/10.18203/issn.2455-4510.IntJResOrthop20184385

Split hand/foot malformation with longitudinal deficiency of tibia: novel rehabilitation approach of a rare syndrome

Pabitra Kumar Sahoo, Mamata Manjari Sahu, Sakti Prasad Das

Abstract


Background: Split hand/foot malformation with longitudinal deficiency of tibia (SHFLD1) is an extremely rare congenital anomaly, even rarer are the descriptions in the literature of suitable techniques of treatment. Most of the literature available are case reports, based on genetic studies. This study highlights on functional management rather than anatomic correction of deformity. A clinician may not come across a patient with such a rare congenital disorder during his entire career.

Methods: On retrospective review of hospital record from July 2008 to July 2018, we observed 5 cases of tibial deficiency associated with split hand and or split foot anomalies and diagnosed as SHHLD syndrome. Clinical and radiological analysis was done to plan out surgical and rehabilitation protocol for individual cases.

Results: As per Flatt’s grouping of split hand, 3 limbs (37.5%) were group-1 type, 3 limbs (37.5%) of group-2 type and group-3 type was seen in 2 limbs (25%) of a patient with bilateral involvement. With respect to Jone’s radiological classification system, 4 limbs (57%) were of type Ia, 2 limbs (29%) were having type IV deformity and 1 limb (14%) was with type II deformity. One case agreed for amputation was fitted with above knee prosthesis and another one with custom designed bend knee prosthesis. Eldest case was rehabilitated with tricycle and modified orthosis. Surgical correction was tried in one case.

Conclusions: Functional rehabilitation instead of anatomic correction should be tried at late presentation. Cleft closure should be done before development of functional adaptability.


Keywords


Ectrodactyly, Gallop-Wolfgang complex, Split hand, Tibial hemimelia, Tibial aplasia, Prosthesis

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References


Kaissi AA, Ganger R, Katharina M, Grill F. A child with split hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome Region 17p13.3. Am J Med Genet PartA. 2014;164:2338-43.

Kulkarni AM, Jain BM, Kulkarni ML. Tibial aplasia with ectrodactyly- A rare case report. J Res Radiodiagnosis Teleradiography Imaging. 2016;2(2):18-9.

Nutt JN 3rd, Flatt AE. Congenital central hand deficit. J Hand Surg. 1981;6(1):48-60.

Blauth W, Borisch NC. Cleft feet. Proposal for new classification based on roentgenographic morphology. Clin Orthop Relat Res. 1998;258:41-8.

Ali Kaissi AI, Ganger R, Katharina M, Klaushofer K, Grill F. Reconstruction of bilateral tibial aplasia and split hand foot syndrome in a father and daughter. Afr J Pediatr Surg. 2014;11:3-7.

Walker JC, Clodius L. The syndromes of cleft lip, cleft palate and lobster claw deformities of hands and feet. Plast Reconstr Surg. 1963;32:627-36.

Barsky AJ. Cleft hand. Classification, Incidence and treatment. Review of the literature and report of 19 cases. J Bone Joint Surg Am. 1964;46:1707-20.

Pandey D, Murlidhar V, Nambiar J, Lewis L. Gollop-Wolfgang complex- A rare limb deficiency syndrome:Case report and review of literature.The Int J of Gynecology and Obstetr. 2008;9(1):1.

Majewski F, Kuster W, Harr B, Geocke T. Aplasia of tibia with split hand / split foot deformity- A report of 6 families with 35 cases and consideration about variability and penetrance. Hum Genet. 1985;70(2):136-47.

Lezirovitz K, Maestrelli SRP, Cotrim HN, Otto P APearson PL. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1 – 17p13.3. Hum Genet. 2008;123:625-31.

Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet. 2012;49:115-25.

Petit F, Jourdain AS, Andrieux J, Baujat G, Bauman C, Beneteau C, et al. Split hand / foot malformation with long bone deficiency and BHLHA9 duplication: report of 13 new families. Clin Genet. 2014;85:464-9.