A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.

We describe a-2-year-old boy who presented with a neonatal history of thrombocytopenia associated with a constellation of limb malformations mimicking split hand/foot malformation with long bone deficiency (SHFLD) syndrome. Limb malformations consisted of unilateral monodactyly with radial aplasia, unilateral split foot and bilateral club foot. Tibial aplasia of one limb and tibial hypoplasia of the other limb were notable. Partial agenesis of the sacrum was additional skeletal malformation. Craniofacial features included dense thick scalp hair, narrow frontal area, thick eye-brows, deep-set eyes, depressed nasal bridge, and small overhanging nasal tip, full-cheeks, and large ears. Array-CGH showed duplication of the short arm of chromosome 17p13.3 in the boy and his father, respectively. The father was free from any skeletal abnormalities, though he shares similar craniofacial dysmorphic features like his son. In addition, a paternal sib (uncle of the proband) manifested a phenotype similar to that of the proband. To the best of our knowledge the overall phenotypic and genotypic characterizations were consistent but not completely compatible with the traditional type of TAR syndrome or with SHFLD syndrome. We report on what might be a novel variant of SHFLD associated with transient thrombocytopenia, dysmorphic facial features, and a constellation of bone malformations.

[Clubfoot associated with tibial and fibular hemimelia]. / Der Klumpfuß bei tibialer und fibularer Hemimelie.

AIM: Clubfoot is rarely associated with tibial or fibular hemimelia. Treatment is complex and in most of the cases extensive surgery is required. At present experience with Ponseti casting is limited. We describe casting and surgical treatment of 10 clubfeet associated with tibial and fibular hemimelia. MATERIAL AND METHOD: Between 1.1.2004 and 31.12.2009 398 clubfeet were treated with casting in our institution. In the same period 10 clubfeet were associated with fibular or tibial hemimelia. Treatment started in 9 clubfeet with Ponseti manipulation and casting. We used the classification of Weber for tibial hemimelia and the Kalamchi-Achterman classification and Paley classification for fibular hemimelia. Data of all patients were prospectively documented and the result of the foot deformity was evaluated before a first lengthening procedure. Documentation included patient data, associated foot pathologies, surgical procedures, functional results. Functional results were evaluated before the first lengthening procedure started. RESULTS: Three patients had tibial hemimelia, two Weber type 1, one Weber type 2, one Weber type 3. five patients had fibular hemimelia, Paley type IV or Kalamchi-Achterman Type IA. One child had bilateral fibular hemimelia. The prospective leg length discrepancy ranged from 3.2 cm to 14 cm. Four feet had initially a successful treatment with casting. In a type 2 according to Weber we performed an ankle reconstruction procedure to correct tibiofibular diastases. Four feet underwent PMR. We had four relapses. Two equinus relapses were treated with a posterior release. Two severe relapses were finally corrected with resection of the coalition and midfoot osteotomies. In a Weber type 3 case a complex reconstruction was performed using an Ilisarov and a TSF frame. Functional results showed in a mean follow-up of 42.2 months (24-72 months) a dorsiflexion between 5 and 20° (Ø 7.7°) and a plantarflexion between 10 and 40° (Ø 26.1°). CONCLUSION: Treatment of clubfoot associated with tibial or fibular hemimelia with the Ponseti technique is limited because of complex hindfoot deformities including tarsal coalitions. Nevertheless treatment after birth starts with casting. Only mild cases of hemimelia without coalition can be corrected with the Ponseti technique. In a case of tibiofibular diastasis successful casting is possible, but extensive surgery is often necessary. In more severe cases we do not recommend casting. In these cases surgical treatment, including posteromedial release, osteotomies for the hindfoot, resection of coalitions or complex osteotomies with Ilisarov or TSF frame is the treatment of choice.