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A child is seen in the pediatric orthopedic hand clinic for evaluation of a congenital deformity. A clinical photograph and radiograph are seen in Figures A and B. What is the next best step in this child's evaluation to rule out an associated autosomal-recessive lethal condition?
Cardiac ultrasound and renal ultrasound
Cardiac ultrasound, barium swallow and MRI
LFTs, CBC and cardiac ultrasound
Cardiac ultrasound, peripheral blood smear and MRI
CBC, peripheral blood smear and chromosomal breakage analysis
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The clinical and radiographic images depict a patient with radial club hand. This is associated with a number of congenital anomalies including Fanconi’s Anemia (FA), thrombocytopenia absent radius (TAR), Holt-Oram syndrome, VACTERL syndrome, and VATER syndrome. Although all these congenital anomalies are important to recognize and treat, none is more life-threatening than FA. FA is an autosomal-recessive condition resulting in aplastic anemia and eventual death. The typical presentation is between 6-9 years of age. It is the most common inherited form of aplastic anemia. Genetic testing will reveal increased chromosomal breakage. A CBC will show decreased leukocytes, red blood cells and platelets. Of the choices above, it is the only one which requires bone marrow transplantation for survival.
DeKerviler et al reviewed many clinical and radiological features of FA. Congenital malformations affect multiple systems including the radial aspect of the forearm as well as the urinary system. They recommended ultrasound and imaging modalities for early detection of FA.
Alter described hematologic disorders manifest in the pediatric upper extremity. Pediatric orthopedic surgeons may be the first to detect FA, Diamond-Blackfan anemia and TAR. As such, an understanding of the syndromes and inheritance patterns may aid in early detection and aid in future genetic counseling.
De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J.
Clin Radiol. 2000 May;55(5):340-5. PMID: 10816398 (Link to Abstract)
J Hand Surg Am. 1992 May;17(3):566-71. PMID: 1613241 (Link to Abstract)
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A 7-month-old boy has radial longitudinal deficiency. The initial work-up is negative for any cardiac, hematopoetic or renal abnormalities. He has good active elbow flexion and no other deformities. A clinical image and radiograph are seen in Figures A and B. Surgical management should include which of the following?
Definitive splinting and stretching
Pollicization of the index finger
ECRB and ECRL transfers to the ulna
Free fibula transfer to the forearm
Ulna centralization and possible tendon transfers
The image and vignette are consistent with non-syndromic radial longitunidal deficiency (RLD). He has a viable thumb with good active elbow flexion, therefore the treatment of choice is centralization and tendon transfers to re-establish balance across the wrist. The goal of centralizing the carpus on the ulna is to improve reach and to stabilize tendons and muscle balance across the wrist.
The decision for surgery is based on the range of motion of the elbow. In the case of a stiff elbow, a centralization should not be performed as doing so would prohibit the patient from reaching his/her face for dentition and feeding.
RLD is commonly associated with Thrombocytopenia absent radius (TAR), Holt-Oram and Fanconi’s anemia. Classification of RLD is based on the Bayne and Klug system and takes into account the amount of remaining radius present:
Type I: short distal radius
Type II: short distal radius with residual growth plates
Type III: small proximal radius
Type IV: absent radius
Answer 1: For advanced cases (types III/IV), surgery is recommended
Answer 2: The patient in the scenario has a thumb so pollicization is not indicated
Answer 3: This is not a surgical option
Answer 4: MTPJ transfers have been explored but not free fibula
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A 2-year-old boy has the upper limb deformity seen in Figures A and B. All of the following are associated with this condition EXCEPT?
The clinical presentation is consistent with radial longitudinal deficiency, also known as "radial clubhand", which is associated with all of the listed conditions except for osteogenesis imperfecta.
Maschke et al report "radial longitudinal deficiency encompasses a spectrum of upper limb dysplasias and hypoplasias. The clinical presentation of the involved upper limb is often more obvious than the potentially life-threatening associated systemic conditions. All children presenting with radial longitudinal deficiency, regardless of severity, require a renal ultrasound, echocardiogram, and complete blood count to evaluate the potential for associated systemic conditions; these include Fanconi’s anemia, the Holt-Oram syndrome, and the VATER (vertebral anomalies, anal atresia, tracheoesophageal fistula, esophageal atresia, renal agenesis) syndrome or VACTERL (vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis, and limb defects) association."
Maschke SD, Seitz W, Lawton J.
J Am Acad Orthop Surg. 2007 Jan;15(1):41-52. PMID: 17213381 (Link to Abstract)
Average 3.0 of 18 Ratings
Title: Radial Deficient Hand Author: Terry R. Light, MD Duration: 18:53