Rare anatomic variation on a 10,000-year-old South American skeleton: the case of Iuzu, Toca dos Coqueiros, Piauí State, Brazil.

PURPOSE: A skeleton named Iuzu has been unearthed from an exceptional middle Holocene burial in Toca dos Coqueiros site, in Serra da Capivara National Park (UNESCO World Heritage Site, Piauí State, Brazil). During a bioarchaeological analysis of its remains, we discovered that Iuzu was suffering from rare vertebral malformations. A double foramen transversaria, the agenesis of a foramen on the atlas and the hypoplasia of the transverse process of the axis have been highlighted. We aimed to deduce the clinical consequences of the malformation on the patient's health. METHODS: We proceeded to macroscopic observation and radiography of the bones, then we search for other examples of such a pathology in archaeological litterature. RESULT: The malformation caused vascular insufficiency that may have led to neurological lesions leading to various pains and troubles. The very rare malformations Iuzu presented have not been found on a paleoindian skeleton from South America so far. CONCLUSION: This case allowed us to examine the conditions of selection of individuals buried in southern Piauí during the Middle Holocene, during which time this rite does not seem to predominate.

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

Context: Genetic evaluation has been recognized as an important tool to elucidate the causes of growth disorders. Objective: To investigate the cause of short stature and to determine the phenotype of patients with IHH mutations, including the response to recombinant human growth hormone (rhGH) therapy. Patients and Methods: We studied 17 families with autosomal-dominant short stature by using whole exome sequencing and screened IHH defects in 290 patients with growth disorders. Molecular analyses were performed to evaluate the potential impact of N-terminal IHH variants. Results: We identified 10 pathogenic or possibly pathogenic variants in IHH, an important regulator of endochondral ossification. Molecular analyses revealed a smaller potential energy of mutated IHH molecules. The allele frequency of rare, predicted to be deleterious IHH variants found in short-stature samples (1.6%) was higher than that observed in two control cohorts (0.017% and 0.08%; P < 0.001). Identified IHH variants segregate with short stature in a dominant inheritance pattern. Affected individuals typically manifest mild disproportional short stature with a frequent finding of shortening of the middle phalanx of the fifth finger. None of them have classic features of brachydactyly type A1, which was previously associated with IHH mutations. Five patients heterozygous for IHH variants had a good response to rhGH therapy. The mean change in height standard deviation score in 1 year was 0.6. Conclusion: Our study demonstrated the association of pathogenic variants in IHH with short stature with nonspecific skeletal abnormalities and established a frequent cause of growth disorder, with a preliminary good response to rhGH.

Accessory Soleus: A Case Report of Exertional Compartment and Tarsal Tunnel Syndrome Associated With an Accessory Soleus Muscle.

An accessory soleus muscle is a rare anatomic variant that frequently presents as an asymptomatic soft tissue swelling in the posteromedial ankle. Less frequently, the anomalous muscle can cause pain and swelling with activity. We present the case of a 17-year-old male with exertional compartment syndrome and associated tarsal tunnel syndrome secondary to a very large accessory soleus muscle. After surgical excision, the patient was able to return to full activity with complete resolution of symptoms.

Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment.

OBJECTIVE: The aim of this study was to assess the capacity of three-dimensional ultrasound (3DUS) for predicting lethality in fetuses with skeletal dysplasia. METHODS: Twenty-four fetuses between 20 and 32 weeks of gestation were assessed. Bilateral lung volume scans were performed three times in each fetus during one ultrasound session. The virtual organ computer-aided analysis method was used to obtain a sequence of six sections of each lung around a fixed axis, and a rotation angle of 30° was adopted. Fetal lung volume measurements were analyzed according to the reference range. After birth, lung hypoplasia was diagnosed considering clinical and radiological criteria. RESULTS: Of all cases of skeletal dysplasia, 18 (75%) were lethal. Among the lethal cases, after postnatal diagnosis, four were osteogenesis imperfecta type II, three were thanatophoric dysplasia and two were campomelic dysplasia. The remaining nine cases remained without a definitive diagnosis. The accuracy of 3DUS in predicting lethality in fetuses with skeletal dysplasia was high, with a sensitivity of 83.3%, specificity of 100%, positive predictive value of 100% and negative predictive value of 66.7%. The kappa index of 0.174 showed a good agreement between the possibility of lethality when the 3DUS volume measurement was altered and real lethality after birth (p < 0.001). CONCLUSION: This study suggests that the 3DUS lung volume measurement is a good predictor of lethal pulmonary hypoplasia in fetuses with skeletal dysplasia, with high accuracy.

Prevalence and factors associated with thoracic alterations in infants born prematurely.

OBJECTIVE: To determine the prevalence of thoracic musculoskeletal alterations and associated factors in infants born prematurely. METHODS: This was a cross sectional study with infants in the first year of age, born prematurely with birth weight < 2,000 g, who were followed up at the Premature Clinic from February, 2007 to December, 2008. Exclusion criteria were: major congenital malformations as defined by the Centers for Disease Control and Prevention (CDC), grade III/IV intraventricular hemorrhage, or periventricular leucomalacia. Physical examinations performed independently by two physiotherapists were used to assess shoulder elevation and thoracic retractions. Comparisons between groups were performed using the chi-squared test or Fisher's exact test for categorical variables, and Mann-Whitney's test or Student's t-test were used for continuous variables. Interobserver reliability between the two physiotherapists was assessed by the kappa coefficient. Variables associated with these thoracic musculoskeletal alterations were studied by univariate and multiple logistic analyses. Statistical differences were considered significant when p < 0.05. This study was approved by the ethical committee of the institution, and parents/guardians signed an informed consent. RESULTS: 121 infants with a gestational age of 31.1 ± 2.8 weeks and birth weight of 1,400 ± 338 g were included. Thoracic alterations were detected by Physiotherapist 1 in 81 (66.9%) infants, and in 83 (68.6%) by Physiotherapist 2 (kappa coefficient = 0.77). By multivariate logistic regression analysis, factors associated with thoracic musculoskeletal alterations were: respiratory distress syndrome (odds ratio [OR] = 3.246, 95% confidence interval [CI]: 1.237-8.732), bronchopulmonary dysplasia (OR = 11.138, 95% CI: 1.339-92.621), and low length/age ratio (OR = 4.571, 95% CI: 1.371-15.242). CONCLUSION: The prevalence of thoracic alterations was high in infants born prematurely, and was associated with pulmonary disease and low length/age ratio.

Prevalence and factors associated with thoracic alterations in infants born prematurely / Prevalência e fatores associados às alterações torácicas em lactentes nascidos prematuros

OBJECTIVE: To determine the prevalence of thoracic musculoskeletal alterations and associated factors in infants born prematurely. METHODS: This was a cross sectional study with infants in the first year of age, born prematurely with birth weight < 2,000 g, who were followed up at the Premature Clinic from February, 2007 to December, 2008. Exclusion criteria were: maj or congenital malformations as defined by the Centers for Disease Control and Prevention (CDC), grade III/IV intraventricular hemorrhage, or periventricular leucomalacia. Physical examinations performed independently by two physiotherapists were used to assess shoulder elevation and thoracic retractions. Comparisons between groups were performed using the chi-squared test or Fisher's exact test for categorical variables, and Mann-Whitney's test or Student's t-test were used for continuous variables. Interobserver reliability between the two physiotherapists was assessed by the kappa coefficient. Variables associated with these thoracic musculoskeletal alterations were studied by univariate and multiple logistic analyses. Statistical differences were considered significant when p < 0.05. This study was approved by the ethical committee of the institution, and parents/guardians signed an informed consent. RESULTS: 121 infants with a gestational age of 31.1 ± 2.8 weeks and birth weight of 1,400 ± 338 g were included. Thoracic alterations were detected by Physiotherapist 1 in 81 (66.9%) infants, and in 83 (68.6%) by Physiotherapist 2 (kappa coefficient = 0.77). By multivariate logistic regression analysis, factors associated with thoracic musculoskeletal alterations were: respiratory distress syndrome (odds ratio [OR] = 3.246, 95% confidence interval [CI]: 1.237-8.732), bronchopulmonary dysplasia (OR = 11.138, 95% CI: 1.339-92.621), and low length/age ratio (OR = 4.571, 95% CI: 1.371-15.242). CONCLUSION: The prevalence of thoracic alterations was high in infants born prematurely, and was associated with pulmonary disease and low length/age ratio.

OBJETIVO: Determinar a prevalência e os fatores associados às alterações torácicas musculoesqueléticas em lactentes nascidos prematuros. MÉTODOS: Estudo transversal com lactentes no primeiro ano de vida, nascidos prematuros com peso < 2000 g e acompanhados em um ambulatório de seguimento de prematuros, de fevereiro/2007 a dezembro/2008. Foram excluídas crianças com malformações maiores definidas pelo CDC ou com hemorragia peri-intraventricular grau III/IV ou leucomalácia periventricular. Duas fisioterapeutas realizaram o exame físico, avaliando, de modo independente, a elevação de ombros e as retracões da caixa torácica. O estudo foi aprovado pelo Comitê de Ética em Pesquisa da Instituição, sendo solicitada assinatura do Termo de Consentimento pelos pais. As variáveis numéricas foram comparadas pelo teste t ou Mann-Whitney. O grau de concordância entre as avaliações das fisioterapeutas foi obtido pelo coeficiente kappa e as variáveis associadas às alterações torácicas foram estudadas por regressão logística univariada e múltipla. Considerou-se significante p < 0,05. RESULTADOS: Foram estudados 121 lactentes com idade gestacional de 31,1 ± 2,8 semanas e peso ao nascer de 1400 ± 338 g. A fisioterapeuta 1 detectou alterações torácicas em 81 (66,9%) lactentes e a fisioterapeuta 2 em 83 (68,6%) (coeficiente kappa = 0,77). Os fatores associados às alterações musculoesqueléticas foram: síndrome do desconforto respiratório no período neonatal (OR=3,246; IC 95%: 1,237-8,732), ter apresentado displasia broncopulmonar (OR=11,138; IC 95%: 1,339-92,621) e relação comprimento para a idade alterada (OR=4,571; IC 95%: 1,371-15,242). CONCLUSÃO: A prevalência de alterações torácicas foi alta em lactentes nascidos prematuros e associou-se a doença pulmonar no período neonatal e baixa relação comprimento/idade.

[Holt-Oram syndrome and portal extrahepatic hypertension. A case report]. / Síndrome de Holt-Oram asociado con hipertensión portal.

BACKGROUND: The Holt-Oram syndrome (HOS) is characterized by skeletal abnormalities, frequently accompanied by congenital cardiac defects. It was first described by Holt and Oram in 1960. It has a prevalence of 0.95/10,000 live newborns. The syndrome shows a dominant autosomic heritance with high penetrance. A mutation in the transcription gene factor TBX5 has been identified. This factor has been shown to be important in the heart and upper extremities development. CLINICAL CASE: A 17 year-old boy with muscle-skeletal abnormalities in forearms and hands, with implantation defects of thumbs and narrow shoulders as well as wide atrial septal defect type osteum secundum. He also showed portal cavernomatosus degeneration which conditioned portal extrahepatic hypertension and esophageal varicose veins. The diagnosis was established by clinical, radiological and auxiliary studies. His parents were also studied, and they did not show abnormalities. CONCLUSIONS: Two previous cases have been reported in the Mexican medical literature, both due to de novo genetic mutation. However, none has been associated with portal cavernomatosus degeneration and portal hypertension.

Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA.

We report on a boy with a congenital disorder of glycosylation (CDG) Ia and a severe narrowing of the spinal canal caused by atlantoaxial subluxation with anterior displacement of C1. C1-laminectomy improved the progressive paresis. Progressive paresis caused by spinal cord compression is a hitherto unrecognized complication in patients with CDG-Ia.