The prevalence of the sesamoid bones of the hand: a systematic review and meta-analysis.

The literature contains various estimates of the prevalence and distribution of the sesamoid bones in the hands. The aims of this systematic review are to provide a better estimate of the frequency of hand sesamoids and its association with variables such as ancestry, gender, and side. Nineteen studies met the inclusion criteria. The pooled rates of the sensitive meta-analyses from large-sample studies in adults showed: (a) true overall rates of 99.9% for the metacarpophalangeal (MCP) joint of the thumb (MCP-I), 53% for the interphalangeal joint (IP-I), 43.4% for the MCP of the index (MCP-II), 1.47% for the MCP of the medius finger (MCP-III), 0.6% for the MCP of the ring finger (MCP-IV), and 67.7% for the MCP of the auricular finger (MCP-V); (b) true radiological rates of 99.9% for the radial thumb sesamoid, 99.6% for the ulnar thumb sesamoid, 47.8% for IP-I, 40% for MCP-II, 1.3% for MCP-III, 0.8% for MCP-VI, and 62.8% for MCP-V. Black, Middle Eastern, and European ancestries conferred significantly higher sesamoid frequencies at IP-I, MCP-II, and MCP-V, respectively. There was a significant association with female gender at MCP-II, MCP-IV, and MCP-V, with ORs of 1.53, 4, and 1.3, respectively, and a nonsignificant "female" trend for the other locations. There was no significant association with hand side. The pooled rates of hand sesamoids in children aged 10-17 years were 92.7, 42.2, 33.8, 0.5, 0.3, and 36.5% for MCP-I, IP-I, MCP-II, MCP-III, MCP-IV, and MCP-V, respectively. The findings of this evidence-based anatomical review provide quantitative evidence that the incidence of sesamoid bones in human hands depends on genetic rather than functional factors.

Characteristic radiographic features of the central ray in Apert syndrome.

We reviewed retrospectively seven patients with Apert acrosyndactyly and measured the size of the capitate ossification centre relative to that of the hamate and determined the relative position of the middle finger metacarpal relative to the ring finger metacarpal. We then compared those parameters in 197 normal children. In all patients, the middle finger metacarpal bone had migrated proximally relative to the ring finger metacarpal and the size of the capitate ossification centre was smaller than that of the hamate. After surgical release of the middle finger, relative proximal migration of the middle finger metacarpal was partially relieved and catch-up growth of the capitate was observed within several months. As fusion of the distal phalanges creates a diamond-shaped configuration, bone growth is markedly impaired in the middle finger ray. Therefore, early separation of the middle finger may be as important as early separation of the border digits.

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI.

Mucopolysaccharidosis type VI (MPS VI) is a progressive, multisystem autosomal recessive lysosomal disorder resulting from deficient N-acetylgalactosamine-4-sulphatase (ASB) and the consequent accumulation of glycosaminoglycan (GAG). Preclinical and clinical studies had demonstrated clinical benefits of early initiation of systemic therapies in patients with MPS. In this case report, two siblings with MPS VI started enzyme replacement therapy (ERT) with weekly infusions of recombinant human ASB (Galsulfase) at 1mg/kg. Sibling 1 started ERT 5.6 years of age and Sibling 2 was 6 weeks old. The disease status in these two siblings prior to and for no less than 36 months of ERT was followed up and compared. The treatment was well tolerated by both siblings. During 36 months of ERT, symptoms typical of MPS VI including short stature, progressive dysmorphic facial features, hepatosplenomegaly, hearing impairment, corneal clouding, and dysostosis multiplex were largely absent in the younger sibling. Her cardiac functions and joint mobility were well preserved. On the other hand, her affected brother had typical MPS VI phenotypic features described above before commencing ERT at the equivalent age, of 3 years. There was significant improvement in the shoulder range of motion and hearing loss after 36 months of treatment and cardiac function was largely preserved. His skeletal deformity and short stature remained unchanged. The results showed that early ERT initiated at newborn is safe and effective in preventing or slowing down disease progression of MPS VI including bone deformities. These observations indicate that early diagnosis and treatment of MPS VI before development of an irreversible disease is critical for optimal clinical outcome.

Case report: Duane Retraction Syndrome associated with hand anomaly.

Duane Retraction Syndrome is a congenital eye movement disorder characterized by a failure of cranial nerve VI to develop normally, resulting in restriction or absence of abduction, restricted adduction and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. Patients with Duane Retraction Syndrome appear to have a significant increase in the number of associated congenital malformations. In the present paper, the authors report a case of Duane Retraction Syndrome with a unique hand abnormality not reported previously.

A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome.

There are few reports of the typical radiographic findings in the hands and feet of patients with Muenke syndrome. We present a case report of a young girl with Muenke syndrome, whose diagnosis was made following the observation of coalitions and coned epiphyses on hand radiographs.

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.

Stickler syndrome is characterized by ophthalmic, articular, orofacial, and auditory manifestations. It has an autosomal dominant inheritance pattern and is caused by mutations in COL2A1, COL11A1, and COL11A2. We describe a family of Moroccan origin that consists of four children with Stickler syndrome, six unaffected children, and two unaffected parents who are distant relatives (fifth degree). All family members were clinically investigated for ear, nose, and throat; ophthalmologic; and radiological abnormalities. Four children showed symptoms characteristic of Stickler syndrome, including moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, and epiphyseal dysplasia. We considered the COL9A1 gene, located on chromosome 6q13, to be a candidate gene on the basis of the structural association with collagen types II and XI and because of the high expression in the human inner ear indicated by cDNA microarray. Mutation analysis of the coding region of the COL9A1 gene showed a homozygous R295X mutation in the four affected children. The parents and four unaffected children were heterozygous carriers of the R295X mutation. Two unaffected children were homozygous for the wild-type allele. None of the family members except the homozygous R295X carriers had any signs of Stickler syndrome. Therefore, COL9A1 is the fourth identified gene that can cause Stickler syndrome. In contrast to the three previously reported Stickler syndrome-causing genes, this gene causes a form of Stickler syndrome with an autosomal recessive inheritance pattern. This finding will have a major impact on the genetic counseling of patients with Stickler syndrome and on the understanding of the pathophysiology of collagens. Mutation analysis of this gene is recommended in patients with Stickler syndrome with possible autosomal recessive inheritance.

Type 0 ulnar longitudinal deficiency.

PURPOSE: To describe the characteristics of type 0 ulnar longitudinal deficiency (ULD) in which deficiencies are present in the hand and carpus without involvement of the forearm or elbow. METHODS: A retrospective chart, radiograph, and clinical photograph review (1960-2005) of patients previously diagnosed with ectrodactyly, hand hypoplasia, or ULD was performed to evaluate for a diagnosis of ULD isolated to the hand. RESULTS: Thirteen extremities were identified. Three extremities had complete absence of the small-finger ray (phalanges and metacarpal) and 6 extremities had complete absence of the ring- and small-finger rays. Four hands showed hypoplasia of the small finger, 3 in conjunction with a ring- and small-metacarpal synostosis and 1 in isolation. Three extremities also had radial-sided hypoplasia or aplasia of the rays. Additional common findings included simple syndactyly, delta phalanx, and carpal fusions, most commonly of the capitohamate joint. CONCLUSIONS: Patients with isolated ulnar-sided hand deficiency such as ectrodactyly of the ring and/or small fingers or synostosis of the small metacarpal of the ring finger in the presence of a normal forearm may be diagnosed as having type 0 ULD. We propose that type 0 be added to the current classification systems for ULD representing those extremities with deficiencies isolated to the hand.

Perinatal/neonatal case presentation: unexpected severe respiratory insufficiency in a newborn with Holt-Oram Syndrome.

Holt-Oram syndrome is an autosomal dominant condition characterized by skeletal and cardiac defects. Pulmonary malformation is not reported to belong to the spectrum of this condition. We report a second case of a newborn with Holt-Oram syndrome who developed severe respiratory insufficiency shortly after birth. We discuss possible genetic links between abnormal pulmonary morphogenesis and Holt-Oram syndrome.

Radiographic evaluation and unusual bone formations in different genetic patterns in synpolydactyly.

OBJECTIVE: To compare the radiological findings of heterozygous and homozygous subjects with synpolydactyly (SPD) and to discuss their unusual bone formations. DESIGN AND PATIENTS: Families with hand and foot SPD were examined. Genetic analysis was performed with blood samples and the pedigree was constructed. The affected individuals, especially those with distinctive phenotypic features, were invited to our orthopaedics clinic for further diagnostic studies. All participants underwent detailed clinical and X-ray examinations. RESULTS: Of the invited patients, 16 (five female and 11 male; age range 4-37 years, mean age 10.75 years) were included in our study, and hand and foot radiographs were obtained. All subjects had bilateral hand radiographs (32 hands), and 14 had bilateral foot radiographs (28 feet). Genetic analysis revealed 12 heterozygote (75%) and four (25%) homozygote phenotypes. Among patients enrolled into the study nine (three homozygotes, six heterozygotes) had SPD of both hands and feet bilaterally (tetrasynpolydactyly). Six unusual bone formations were observed in the hands and feet: delta phalanx, delta metacarpal/metatarsal, kissing delta phalanx, true double epiphysis, pseudoepiphysis and cone-shaped epiphysis. There were major differences in radiological and clinical manifestations of homozygote and heterozygote phenotypes. The homozygous SPD presented with very distinctive unusual bone formations. CONCLUSION: The existence and variety of unusual bones may indicate the severity of penetrance and expressivity of SPD.