1/22. Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.Mutations of the fibroblast growth factor receptors (FGFRs) cause several dominantly inherited congenital skeletal disorders and syndromes. Recently, these mutations have been suggested to cause either ligand-independent activation of the receptor or a dominant negative inactivation. The analysis of two Japanese patients with Pfeiffer syndrome and postaxial polydactyly of the hand now shows that both carried the same 1119-2A-to-G transition of the FGFR2 gene and this nonsense mutation caused skipping of exon 9(B) and haploinsufficiency of FGFR2.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
2/22. Congenital dislocation of the patella. Part II: orthopaedic management.Five patients (eight knees) with diagnosed congenital dislocation of the patella and well-documented charts were reviewed. Age at diagnosis ranged from 4 days to 6 years. A flexion contracture of the knee and femorotibial rotatory dislocation of varying degrees were present in all the cases. The quadriceps was active in all the cases, producing knee flexion in four cases. Foot deformity was associated in all the cases (clubfoot, calcaneovalgus, or congenital vertical talus). Gradual correction of knee flexion contracture with serial casting was attempted in five cases leading to an almost complete extension in two cases. Treatment of patellar dislocation was surgical in all the cases, consisting in extensive quadriceps release (seven knees) or V-Y lengthening (one knee), division of lateral soft tissues, and reefing of the medial retinaculum and capsule. Intraoperative anomalies were recorded. At an average follow-up of 6.9 years, all the patients are able to walk on their operated limb, and the patella is centered in the trochlea in all the cases. knee mobility, rotatory dislocation, and daily function were improved in seven cases.- - - - - - - - - - ranking = 2241.8872163265keywords = deformity (Clic here for more details about this article) |
3/22. uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three other males in the family, now deceased from cardiac disease, appear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line. These cases represent an apparently previously undescribed X-linked recessive syndrome.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
4/22. fibroma of a tendon-sheath presenting as toe deformity.We describe a rare manifestation fibroma in a tendon-sheath in an 83-year-old man. The patient complained initially of a slowly progressive spreading, apart of the right second and third toes. A mass was found in the plantar aspect of the foot. It was completely excised at surgery. Histological examination revealed sparse spindle or stellate cells with slit-like vessels in the dense collagenous matrix. There had been no recurrence at follow-up 17 months after surgery.- - - - - - - - - - ranking = 8967.5488653061keywords = deformity (Clic here for more details about this article) |
5/22. Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality.Congenital dyserythropoietic anemias (CDAs) are a group of hereditary refractory anemias characterized by ineffective erythropoiesis, typical morphological abnormalities of erythroblasts, a low or no reticulocyte response, hyperbilirubinemia, and splenomegaly. A massive hydropic newborn born with a very severe anemia (Hb 4.8 g/dL), diffuse edema, hepatosplenomegaly, ascites, pulmonary edema and respiratory distress, and shortness and hallux varus deformity of the great toe of the right foot was diagnosed to have congenital dyserythropoietic anemia on the basis of the hematological (macrocytosis, anisopoikilocytosis, fragmented red cells and erythroblastosis in the peripheral blood, and erythroid hyperplasia with erythroblastosis and erythroblasts with double nuclei and thin chromatin bridges connecting these nuclei in the bone marrow) and serological (negative acidified serum lysis test and no agglutination with anti-i antibodies) findings. In this article the seventh case of neonatal congenital dyserythropoietic anemia presenting with a very severe (lethal) form of hydrops fetalis and a new (hallux varus) deformity of the great toe of the right foot is presented. Congenital dyserythropoietic anemia should be considered in the differential diagnosis of hydrops fetalis presenting with a very severe anemia and a skeletal abnormality of the great toe.- - - - - - - - - - ranking = 4483.7744326531keywords = deformity (Clic here for more details about this article) |
6/22. Split cord malformation in two sisters.Split cord malformations (SCMs) are uncommon congenital spinal anomalies and are seen mostly in females. SCMs in siblings are extremely rare. We report two sisters with SCM. These 10- and 8-year-old girls were the first and second children, respectively, of nonconsanguineous parents. Both sisters had a hypertrichosis and pes cavus deformity. The first child had a type I SCM and the second a type II SCM. They had additional spinal lesions, with tethering of the spinal cord. They were operated on and showed an uneventful postoperative course. All reported siblings with SCM have been female. The present data are not sufficient to account for the sex predilection. Therefore, further data and knowledge are needed.- - - - - - - - - - ranking = 2241.8872163265keywords = deformity (Clic here for more details about this article) |
7/22. Primary idiopathic osteolysis: description of a family.A clinical, analytical, and radiological study was carried out on three members of the same family with multicentric idiopathic osteolysis. Transmission appeared to be via the dominant autosome present in the mother and two daughters. In the daughters osteolysis was seen in the carpal and tarsal bones, whereas in the mother radiology showed it to be in the phalanges of the hands and feet.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
8/22. Oto-palato-digital syndrome type II. Report of two related cases.Two cases with major features of bowed long bones, hypertelorism, mandibular hypoplasia and hand and foot abnormalities with early neonatal death due to respiratory failure are presented. The radiologic and clinical findings are in keeping with oto-palato-digital syndrome type II and differ significantly from other causes of bowed long bones such as campomelic and kyphomelic dysplasias.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
9/22. Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus.OBJECTIVES: To describe and discuss the clinical, cytogenetic and molecular findings in a fetus with the first prenatally detected interstitial deletion of chromosome 2q. CASE REPORT: A fetus with increased nuchal translucency on routine ultrasound examination at 13 weeks' gestation was found to have severe upper-limb abnormalities on follow-up ultrasound examination at 16 weeks. The pregnancy was terminated, and the autopsy revealed monodactyly of the right upper limb, oligodactyly of the left upper limb and bilateral split foot, as well as atrial and ventricular septal defects and mild facial dysmorphism. RESULTS: Cytogenetic studies and haplotype analysis of the fetus and both parents showed that the fetus carried a de novo deletion encompassing a region of about 30 Mb on the paternal chromosome 2q (karyotype 46,XX,del(2)(q24.2-q32.2)). CONCLUSION: This is the first instance of increased nuchal translucency associated with a chromosome 2q deletion. Moreover, the striking malformations affecting all four of the fetus' limbs support previous suggestions that a novel locus for split-hand/foot malformation (SHFM5) lies on chromosome 2q31.- - - - - - - - - - ranking = 5keywords = hand (Clic here for more details about this article) |
10/22. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, pallister-hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly. However, the different phenotypes resulting from GLI3 mutations have not yet been properly defined. We have experienced two types of digital abnormality without other complicating developmental defects; a family with foot PPD-IV with syndactyly of the third and fourth fingers, and four sporadic cases with biphalangeal thumb polydactyly (PPD-I). The genes responsible for syndactyly of the third and fourth fingers (syndactyly type-I) and PPD-I have not yet been identified; we therefore examined the involvement of the GLI3 gene in these subtypes of digital abnormality. We found a non-sense mutation in the GLI3 gene in the family with foot PPD-IV accompanied with hand syndactyly of the third and fourth fingers, but no mutations were detected in the GLI3 gene in the four other cases with PPD-I alone. Thus, the phenotype of foot PPD-IV accompanied with hand syndactyly of the third and fourth fingers may result from a GLI3 mutation, whereas the PPD-I phenotype alone is not caused by GLI3 gene defect. These results will help to define the phenotypic spectrum of GLI3 morphopathies, which have been recently proposed.- - - - - - - - - - ranking = 2keywords = hand (Clic here for more details about this article) |
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