The Prevalence of Bunions in the Setting of Brachymetatarsia.

Brachymetatarsia is caused by premature closure of the physis and is characterized by a short metatarsal. Additional foot conditions may exist in patients presenting with brachymetatarsia, such as hallux valgus (HV). A retrospective study was performed to evaluate the prevalence of HV and brachymetatarsia in the ipsilateral foot. Ninety-seven feet with congenital brachymetatarsia were reviewed in a multi-study cohort of 66 patients who underwent surgical correction between January 2005 and August 2020 at a single institution. The group was comprised of 61 females and 5 males, with a mean age of 27 years. HV deformities were verified with standardized anteroposterior radiographs. HV was present in 29 of 97 feet for a prevalence of 30% in the feet with brachymetatarsia. Our results demonstrate a 30% prevalence of HV associated with brachymetatarsia. This information is helpful for foot and ankle surgeons managing brachymetatarsia to determine appropriate conservative or surgical management of this condition.

Forefoot malformations, deformities and other congenital defects in children.

Congenital pathologies of the forefoot encompass two broad entities with vastly different treatments and prognosis: malformations, which occur during the embryonic period and cause anatomical defects, and deformations, which occur during the fetal period on a foot that is configured normally. These deformities are more easily cured when they occur later during the fetal period. When the anomaly is bilateral, a genetic origin must be considered. There are two main entities under the term "deformity": metatarsus adductus and skewfoot (aka "Z"-foot or serpentine foot). Within malformations are brachydactyly (transverse defects), longitudinal defects, syndactyly, polydactyly, clinodactyly and macrodactyly. Among other forefoot abnormalities are hallux valgus, which rarely presents in congenital form, and for which conservative treatment is sometimes sufficient. Also in this group are sequelae of amniotic band constriction, forefoot anomalies secondary to the treatment of congenital pathologies (talipes equinovarus and congenital vertical talus) and nail-related pathologies (ingrown toe nail and incorrect nail position).

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN). All patients were clinically suspected of CAPOS and had hearing problems. In this retrospective analysis of audiological data, we show for the first time that cochlear outer hair cell activity was preserved as shown by the presence of otoacoustic emissions and cochlear microphonic potentials, but the auditory brainstem responses were grossly abnormal, likely reflecting neural dyssynchrony. Poor speech perception was observed, especially in noise, which was beyond the hearing level obtained in the pure tone audiograms in several of the patients presented here. Molecular modelling and in vitro electrophysiological studies of the specific CAPOS mutation were performed. Heterologous expression studies of α3 with the p.Glu818Lys mutation affects sodium binding to, and release from, the sodium-specific site in the pump, the third ion-binding site. Molecular dynamics simulations confirm that the structure of the C-terminal region is affected. In conclusion, we demonstrate for the first time evidence for auditory neuropathy in CAPOS syndrome, which may reflect impaired propagation of electrical impulses along the spiral ganglion neurons. This has implications for diagnosis and patient management. Auditory neuropathy is difficult to treat with conventional hearing aids, but preliminary improvement in speech perception in some patients suggests that cochlear implantation may be effective in CAPOS patients.

Prevalence of Metatarsus Adductus in Symptomatic Hallux Valgus and Its Influence on Functional Outcome.

BACKGROUND: Metatarsus adductus (MA) increases the risk of developing symptomatic hallux valgus (HV). This study aimed to determine the prevalence of MA in patients with symptomatic HV and to evaluate how it affected the functional outcome after scarf osteotomy. METHODS: Between January 2007 and June 2012, a total of 206 patients who underwent scarf osteotomy for symptomatic HV at a tertiary hospital were included. The metatarsus adductus angle (MAA) was determined using the Modified Sgarlato method, and these patients were categorized into 2 groups: MA (MAA > 20 degrees); and Control (MAA ≤ 20 degrees). The patients were prospectively followed for 2 years. RESULTS: The prevalence of MA was 33% (68/206) with a mean MAA of 24 ± 4 degrees (range = 20-39). There was a 21 ± 12 degrees and 18 ± 9 degrees improvement in hallux valgus angle for the MA and Control groups, respectively (P = .061), whereas there was a 6 ± 4 degrees and 6 ± 3 degrees improvement in intermetartarsal angle for the MA and Control groups, respectively (P = .475). The visual analog scale, AOFAS Hallux Metatarsophalangeal-Interphalangeal Scale, and Physical and Mental Component Scores were comparable between the 2 groups both preoperatively and at 2 years' follow-up (all P > .05). Two patients in the control group required revision surgery for recurrence symptomatic HV. CONCLUSION: The authors conclude that MA did not predispose the patient to poorer functional outcome after scarf osteotomy with the advent of good operative techniques. LEVEL OF EVIDENCE: Level II, prospective comparative study.

Prevalence of metatarsus adductus in patients undergoing hallux valgus surgery.

BACKGROUND: Metatarsus adductus (MA) is a congenital condition in which there is adduction of the metatarsals in conjunction with supination of the hindfoot through the subtalar joint. It is generally believed that MA precedes the development of hallux valgus. Historically, studies have demonstrated that patients with a history of MA were ~3.5 times more likely to develop hallux valgus. The purpose of this study was to identify the relative prevalence of MA in patients undergoing surgery for symptomatic hallux valgus. METHODS: Between 2002 and 2012, 587 patients who underwent hallux valgus surgery were retrospectively identified following IRB approval and parameters including the hallux valgus angle (HVA), the intermetatarsal angle (IMA), and the metatarsus adductus angle (MAA) were recorded. The MAA was considered abnormal if the value was greater than 20 degrees. Interobserver and intraobserver reliability studies for the measurement of the MAA were completed as well. RESULTS: Using the modified Sgarlato technique for measurement of the MAA, there was a high interobserver and intraobserver reliability. The interclass and intraclass coefficients were greater than .90. The prevalence of MA in this patient population was found to be 29.5%. Of those patients with MA, 23 males and 150 females were identified. This gave a male to female ratio of 1:6.5 (P < .00001). Lesser toe deformities (claw toes, hammertoes) were the most commonly associated diagnoses identified. When stratified by severity, 113 (65%) patients had an MAA between 21 and 25 degrees, 41 (23.7%) had an MAA between 26 and 30 degrees, 8 (4.6%) patients had an MAA between 31 and 35 degrees, and 11 (6.3%) patients had an MAA greater than 36 degrees. CONCLUSION: Historically the prevalence of MA in patients with hallux valgus has been reported to be 35%. The data in this study indicate a comparable prevalence at 29.4%. The presence of concomitant MA may portend different outcomes for operative treatment of hallux valgus. Further research needs to delineate rates of persistence of deformity in this patient population to guide operative management. LEVEL OF EVIDENCE: Level IV, case series.

Concurrent dorsal dimelia in 160 consecutive patients with congenital anomalies of the hands and feet.

This study was designed to investigate the prevalence of dorsal dimelia in a series of 160 consecutive patients with congenital anomalies of the hands and feet, and to investigate the distribution of dorsal dimelia and the concurrent anomalies. Five cases (3.1%) showed evidence of dorsal dimelia and the distribution of dorsal dimelia was similar to the distribution of concurrent anomalies in all five cases. Another 11 cases of concurrent dorsal dimelia with other congenital anomalies have been reported previously with a positive match in the distributions in all cases. This similarity in the distribution in all 16 reported cases (including the five cases in the current study) is statistically significant. It is concluded that dorsal dimelia in humans is not as rare as it is generally thought to be, and that it may be viewed as an error of dorso-ventral patterning, which occurs in the same distribution as other concurrent anomalies.

Prevalencia de Anomalías de Pie en Niños de Enseñanza Básica de Entre 6 a 12 Años, de Colegios de la Ciudad de Arica-Chile / Prevalence of Foot Anomalies in Schoolchildren between 6 and 12 Years Old of Elementary Education from Arica-Chile

Los problemas ortopédicos del pie en el niño son los más frecuentes en esta época de la vida. Por esto, es importante hacer la diferenciación entre un pie normal y un pie alterado. El objetivo fue determinar la prevalencia de pie plano y pie cavo en alumnos de enseñanza básica de Arica. 420 alumnos (210 niñas y 210 niños) de 3 diferentes tipos de colegios de enseñanza básica de la ciudad de Arica, en edades de entre 6 a 12 años, aparentemente sanos, fueron medidos. A todos los sujetos en estudio se les realizó una evaluación podoscópica de la huella plantar desde el plano anteroposterior. A los padres, apoderados y profesores se les aplicó una encuesta sobre el grado de conocimiento y las implicancias de estas anomalías. Los resultados muestran en los niños varones una prevalencia de un 31,6% para pie plano y un 11,6% para pie cavo, en relación a un 56,8% de niños con pie normal. En las niñas los valores indican un 24,3% para pie plano y un 14,4% para pie cavo. El peso y el índice de masa corporal presentan una correlación positiva en la expresión de anomalías de pie en la población estudiantil de Arica-Chile. El Colegio "Regimiento Rancagua", de tipo municipal, gratuito, presenta los más altos índices de anomalías de pie (45%), Colegio particular (43%) y el Colegio particular subvencionado, los menores índices con un valor de 35%. En el análisis de las encuestas se observa que padres a apoderados tienen pocos conocimientos sobre estas alteraciones y sus consecuencias en la postura. Pie plano es la anomalía de mayor conocimiento por padres y los profesores. Se concluye que pie plano presenta mayor prevalencia en la población estudiantil de Arica, con un 28% y pie cavo una prevalencia total de un 13%.

Orthopedic foot problems in children are the most common at this time of life. For this reason it is important to differentiate between a normal foot and an altered foot. The aim of this study was to determine the prevalence of flat and cavus foot in elementary schoolchildren to Arica, Chile. Four hundred and twenty students (210 girls and 210 boys) from 3 different schools of elementary education in the city of Arica, ages 6-12 years, apparently healthy, were measured. All study subjects underwent an assessment of the footprint from the anteroposterior plane, using a podograph. Parents and teachers were surveyed about the level of knowledge and the implications of these anomalies. The results show in boys a prevalence of 31.6% for flat foot and 11.6% for cavus foot. In girls the prevalence was 24.3% to flat foot and 14.4% for cavus foot. The weight and body mass index are positively correlated in expression standing anomaly in the student population of Arica, Chile. The public, municipal and gratuitous schools, have the highest standing indices of anomalies, with values of 45%. The private schools (43%), subsidized private schools, showing lower rates of abnormal foot, with 35%. In the analysis of the survey shows that few parents have knowledge of these changes and their consequences for the position. Flat foot is the anomaly of greater awareness by parents and teachers. We conclude that flatfoot is more prevalent in the student population of Arica, with 28%, cavus foot presenting a prevalence of 13%.

The incidence of common orthopaedic problems in newborn at Siriraj Hospital.

BACKGROUND: The congenital orthopaedic anomalies in Thai population had a limited data and the previously studies are based on only hospital chart records. OBJECTIVE: To determine the incidence of common congenital orthopedic problems by physical examination in newborn at Siriraj Hospital. MATERIAL AND METHOD: A prospective study was conducted by physical examination of 3,396 newborns from June 2009 to September 2009. All orthopaedic abnormalities of newborns were recorded along with maternal age, obstetric history of mother, complications during pregnancy, complications in labour stage, mode of delivery and presentation. Sex of newborn, birth weight, body length and APGAR score were recorded. RESULTS: Incidence of calcaneovalgus was found in 60:1,000 live births following by metatarsus adductus in 7.6:1,000, polydactyly or syndactyly in 2.6:1,000, talipes equninovarus in 2.4:1,000, brachial plexus injury in 1.5:1,000, developmental dysplasia of hip in 0.6:1,000, osteogenesis imperfecta in 0.6:1,000, skeketal dysplasia in 0.6:1,000, congenital vertical talus in 0.3: 1,000 and fracture clavicle at birth in 0.3: 1,000. CONCLUSION: In the present study, the calcaneovalgus was the most common orthopaedic problem followed by metatasus adductus, polydactyly or syndactyly.

Congenital vertical talus in multiple pterygium syndrome.

BACKGROUND: Congenital vertical talus (CVT) is a rare foot deformity, but it is a commonly associated anomaly in patients with multiple pterygium syndrome (MPS). If left untreated, it can cause pain and morbidity, which will affect the patient's ambulation and quality of life. The aim of this study was to assess the prevalence of CVT among patients with MPS, to characterize the clinical and radiological features and examine the outcome of treatment. METHODS: We reviewed the medical records from 1969 to 2009, and detected 14 patients with a diagnosis of MPS. Data regarding clinical findings, radiographs, associated anomalies, and treatment were collected and analyzed. RESULTS: CVT was seen in 10 of 14 patients (71%). All of them had bilateral involvement. Eight of the 10 (80%) were girls, and 3 of these 10 (30%) were nonambulatory patients. All 7 ambulatory patients had manipulation and casting, followed by a single-stage surgical release. The mean age at surgery was 3.0 ± 3.7 years (range, 3 mo-9 y 2 mo). At the last follow-up, all of the 7 patients (100%) had painless plantigrade feet and a reduced talonavicular joint, and none had recurrence of the deformity. The overall mean follow-up was 6 years (range, 2-19 y) and the mean age at the last follow-up was 9 years (range, 2-23 y). The commonly associated anomalies were scoliosis (93%), tethered cord (14%), hip dislocation (43%), cardiac (29%), respiratory (43%), and gastrointestinal anomalies (29%). CONCLUSIONS: CVT is common in MPS. The other common anomalies included scoliosis, hip dislocation, and respiratory problems. Treatment with manipulation and casting followed by, a single-stage surgical release resulted in a good outcome.

Neonatal foot deformities and their relationship to developmental dysplasia of the hip: an 11-year prospective, longitudinal observational study.

In a prospective study over 11 years we assessed the relationship between neonatal deformities of the foot and the presence of ultrasonographic developmental dysplasia of the hip (DDH). Between 1 January 1996 and 31 December 2006, 614 infants with deformities of the foot were referred for clinical and ultrasonographic evaluation. There were 436 cases of postural talipes equinovarus deformity (TEV), 60 of fixed congenital talipes equinovarus (CTEV), 93 of congenital talipes calcaneovalgus (CTCV) and 25 of metatarsus adductus. The overall risk of ultrasonographic dysplasia or instability was 1:27 in postural TEV, 1:8.6 in CTEV, 1:5.2 in CTCV and 1:25 in metatarsus adductus. The risk of type-IV instability of the hip or irreducible dislocation was 1:436 (0.2%) in postural TEV, 1:15.4 (6.5%) in CTCV and 1:25 (4%) in metatarsus adductus. There were no cases of hip instability (type IV) or of irreducible dislocation in the CTEV group. Routine screening for DDH in cases of postural TEV and CTEV is no longer advocated. The former is poorly defined, leading to the over-diagnosis of a possibly spurious condition. Ultrasonographic imaging and surveillance of hips in infants with CTCV and possibly those with metatarsus adductus should continue.

Brachydactyly.

Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. In isolated brachydactyly, the inheritance is mostly autosomal dominant with variable expressivity and penetrtance. Diagnosis is clinical, anthropometric and radiological. Prenatal diagnosis is usually not indicated for isolated forms of brachydactyly, but may be appropriate in syndromic forms. Molecular studies of chorionic villus samples at 11 weeks of gestation and by amniocentesis after the 14th week of gestation can provide antenatal diagnosis if the causative mutation in the family is known. The nature of genetic counseling depends both on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. There is no specific management or treatment that is applicable to all forms of brachydactyly. Plastic surgery is only indicated if the brachydactyly affects hand function or for cosmetic reasons, but is typically not needed. Physical therapy and ergotherapy may ameliorate hand function. Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies.

Prevalence and pathogenesis of congenital anomalies in cerebral palsy.

BACKGROUND: It has been hypothesised that cerebral palsy (CP) and other congenital anomalies are attributable to feto-fetal transfusion problems in a monochorionic multiple gestation. Thus more than one organ could be compromised leading to the coexistence of two or more anomalies in a fetus. Such anomalies in a singleton birth may be attributable to early demise of the co-conceptus as a vanishing twin. AIM: To determine whether the coexistence of congenital anomalies and CP is greater than a chance finding by comparing the prevalence of congenital anomalies in children with CP with that in the general population of children. METHODS: A population-based register of children with CP born in 1966-1991 in the counties of Merseyside and Cheshire, UK, comprised the index population. Coexisting congenital anomalies were recorded. For comparison the population prevalence of congenital anomalies was obtained from eight congenital malformation registers in the UK. RESULTS: Children with CP were found to have highly significant increases in risk for microcephaly, isolated hydrocephaly, congenital anomalies of the eye, congenital cardiac anomalies, cleft lip and/or palate and congenital dislocation of the hips and talipes (p<0.001) and atresias of the oesophagus (p<0.001) and intestines (p<0.01). The relative risks ranged from 3.1 (95% CI 1.9 to 4.8; p<0.001) for congenital malformations of the cardiac septa to 116.09 (95% CI 84.0 to 162.3; p<0.001) for microcephaly. CONCLUSIONS: Congenital anomalies in children with CP are found much more frequently than expected by chance. A common pathogenic mechanism may account for the coexistence of disparate congenital anomalies. A hypothesis is proposed for such a common pathogenic mechanism.

Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada.

We conducted a clinical population study to examine the incidence and epidemiology of split hand foot-malformation (SHFM) in Manitoba from 1957 to 2003. The total number of births during this period was 850,742. Forty-three patients with SHFM were identified, resulting in an incidence of 1 in 19,784 births. Most patients were ascertained through referrals to the Section of Genetics and Metabolism at the Children's Hospital, Winnipeg, Manitoba. Overall, 22 (51.2%) of affected individuals were females and 21 (48.8%) were male. The left upper limb (LUL) was the most frequently affected, (in 46.5% of patients). The right hand was involved in 39.5%. In 4 patients (9.3%) all four limbs were affected. SHFM is classified as a failure of formation of parts according to the International Federation of Surgical Societies of the Hand (IFSSH) and has also been categorized as Typical or Atypical. Individuals in the Manitoba cohort were classified into two main categories: Typical (29 cases) and Atypical (3 cases). However, 11 patients were not easily placed into either group and comprised a distinct category termed "difficult to classify." Patients in the three groups were then further subdivided depending on whether or not they had additional congenital anomalies. These complex patients included those with single gene disorders in which SHFM has been reported (e.g., ectodermal dysplasia Ectrodactyly Clefting (EEC), tibial aplasia with SHFM, fibular aplasia with SHFM), as well as those with other recognized or unknown patterns of anomalies. Two had deletions involving 9q and 5p respectively. Unlike some other studies, we did not find an excess of males or right-sided defects and only two of the cases--two sisters--were related.

Management of congenital talipes equino varus in Scotland: a nationwide audit.

The Scottish Talipes Register is a record of all newly diagnosed cases of idiopathic congenital talipes equinovarus (CTEV) in Scotland over a four.year period. Two hundred and sixteen children were entered into the register, which recorded initial management and all subsequent interventions, both non-operative and operative. The data, therefore, represent a record of the different management regimens used within Scotland highlighting the variations in duration of conservative management and variations in surgical intervention following different methods of conservative management.

Operative management of rigid congenital club feet in Bangladesh.

We report the early results of the surgical treatment of 59 rigid congenital clubfeet in 42 patients. All the feet were operated on in the same hospital by using a one-stage posteromedial release in 41 patients. The patients were divided into two groups as 24 patients (32 feet) had come to the hospital from rural areas, whereas 18 patients (28 feet) all came from the local semi-urban area. After an average of 2 years and 3 months 44 feet were graded either excellent or good, 7 were fair, and 8 had not been adequately corrected. The best results were seen in children who were operated on between the ages of 1 and 3 years. Those from the semi-urban area and who received adequate long-term postoperative care were slightly better.

[Deformities and misalignment of feet in children--a field study of 345 students]. / Fehlformen und Fehlhaltungen kindlicher Füsse--eine Feldstudie bei 345 Schülern.

PURPOSE: purpose of this study was to evaluate paediatric feet and to document possible problems. MATERIAL AND METHODS: In 345 high school pupils of the 5th and 6th class aged 10 to 13 the feet as well as leg alignment were evaluated with a standardised protocol. RESULTS: Only 36.5% showed regular feet. In almost 2/3rd of the pupils malalignements or even deformities were present. The valgus foot showed the highest incidence with 39.4% followed by a flat foot with 19.1%. 17.1% of the children showed a hallux valgus. There was no correlation between body weight, body height, leg alignment and foot deformity. However, a significant correlation could we found between hallux valgus and splay foot. CONCLUSION: The presented data underlines the necessity for paying attention on the problems of the paediatric feet. During sport lessons in school a special foot training for children should be performed.

Malformaçöes congênitas do aparelho locomotor na cidade de Joäo Pessoa: prevalência e aspectos prognósticos / Congenital malformation of the locomotor system in Joäo Pessoa, Northeast-brazil: prevalence and prognostic aspects

a prevalência real, sistematizada, das MFC do AL ainda nÝo é inteiramente conhecida no Brasil, sobretudo na regiÝo nordeste. O objetivo do presente trabalho foi determinar, através de exame clínico, feito por um ortopedista, nas primeiras 24 horas de vida, a prevalência da MFC do AL. Foram avaliados, clinicamente, 2001 RN de quatro maternidades, representativas dos diferentes estratos sociais da populaçÝo estudada, na cidade de JoÝo Pessoa, durante o período de outubro de 1996 a maio de 1997. A investigaçÝo foi realizada de forma randômica nas maternidades escolhidas. NÝo foi utilizado nenhum exame complementar. As prevalências da MFC maiores, memores e dos defeitos posturais, na presente investigaçÝo, foram respectivamente: 0,8por cento; 2,4 porcento; e 49,2 porcento dos RN avaliados. Os resultados indicam que a prevalência das MFC maiores do AL é semelhante àquela apresentada na literatura, quando o exame é feito pelo especialista e a pesquisa é sistematizada; entretanto a pevalência das MFC menores e dos defeitos posturais é, significativamente, maior do que aquela encontrada por nÝo especialistas

[Results of podoscope screening in 948 non-selected children, with special reference to cavus foot]. / Resultados del screening con podoscopio en 948 niños no seleccionados con especial referencia al pie cavo.

OBJECTIVE: To ascertain the prevalence of cavus foot in a non-selected pediatric population, the percentage of secondary forms and to establish criteria for remission to the specialist. PATIENTS AND METHODS: A randomized study of 948 healthy children older than four years, in which the sole footprint was studied through podoscope, was performed. RESULTS: Cavus foot of different grades was present in 16.3% of the children studied, with a statistically significant difference in favor of girls. There were family antecedents in 60%. Symptoms and/or exploratory abnormal signs were presented in 19.3%, mainly pain, limp and sole dermatitis. Of the diagnoses made, 7.7% were referred to the specialist, with the diagnosis confirmed in 75% and treatment implemented in 50%. There were no cases of secondary cavus foot. CONCLUSIONS: Cavus foot is very frequent in healthy children, has a familiar character and only exceptionally obeys the rules of a neuromuscular cause. We propose four criteria for the selection of patients for referral to the specialist.

Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic findings.

OBJECTIVE: To characterize a kindred of Chiloe Islanders with spondyloepiphyseal dysplasia tarda (SEDT), brachydactyly, precocious osteoarthritis (OA), and intraarticular calcification. METHODS: Sixteen family members underwent a complete physical examination, anthropometric measurements, radiographic studies of the spine and peripheral joints, and analysis of the type II procollagen gene (COL2A1). RESULTS: Seven family members presented with SEDT, brachydactyly, precocious OA, and periarticular calcification while 2 others had the same syndrome but without brachydactyly. The inheritance was autosomal dominant, and the disease cosegregated with a base substitution in the COL2A1 gene. CONCLUSION: The syndrome o SEDT, precocious OA, and brachydactyly in a kindred of Chiloe Islanders is associated with a point mutation in 1 allele of the COL2A1 gene. The relationship of this type of SEDT to familial calcium pyrophosphate dihydrate deposition disease and idiopathic hip dysplasia, both endemic in Chiloe Islanders, needs to be further investigated.