1/26. Coxa pedis dysplasia in congenital convex pes valgus.A dissection was carried out on bilateral congenital convex pes valgus in a newborn who died of congenital visceral malformations. The main finding was a modification in the neck-body relations of the talus. Nearly all muscles showed morphologic alterations. No insertional or histologic anomalies were shown. The plantar calcaneonavicular ligament was stretched and attenuated. The alterations observed in our case affected all the anatomic structures forming and stabilizing the coxa pedis. Our case suggests that the dysplastic evolution of the talar body-neck angle halts, and the neck assumes an adducted, medially inclined and plantar-tilted angle with respect to the talar body. We propose the term "congenital dysplasia of the coxa pedis" to describe this condition, because it emphasizes the primary alteration in the morphogenesis of the talocalcaneonavicular joint.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
2/26. A new arthrogryposis syndrome with facial and limb anomalies.A new familial syndrome of facial and limb anomalies was shown in a 4-month-old girl. Small mouth and jaw with limited jaw movement were seen in infancy, with growth to relatively normal size and movement in adulthood, but with a persistent, deep, horizontal depression just above the chin. Mild short stature and microcephaly as well as large ears with lack of the anthelix were present in family members. Severe flexion contractures of the hands and feet were present and led to subluxation of fingers and club feet in the most severely affect child. Marked variability among family members was seen, but a dominant inheritance seems likely.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
3/26. Deletion of 2q37 and duplication of 10q24: two cases in the same family and review of the literature.We describe two patients (first cousins, once removed) with an unusual head shape, high arched palate, flat nasal bridge, abnormal ears, hand and feet abnormalities and other anomalies. The patients were ascertained independently and it was initially unknown that they were related to each other. Cytogenetic and fluorescent in situ hybridization (FISH) analysis identified a der(2)t(2;10)(q37.3;q24.1) unbalanced translocation resulting in loss of 2q37.3-qter and duplication 10q24.1-qter. The clinical features of these two patients are compared with previously described cases of 2q deletion and 10q duplication. These patients also emphasize the difficulty in some families of understanding and sharing genetic information and in the difficulties in obtaining an accurate pedigree in a genetics clinic.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
4/26. Bilateral congenital convex pes valgus a case report.This paper reports bilateral congenital convex pes valgus frequently termed vertical talus. A successful simple one-stage surgical reconstruction is described to enhance the understanding of the management of this rare complex deformity. Long follow up is emphasized because of a high incidence of recurrence. There has been a one-year follow up so far. Plantigrade and painless feet have been achieved which enables the patient to wear normal shoes.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
5/26. Digito-reno-cerebral syndrome: confirmation of Eronen syndrome.In 1985, Eronen et al. described a new autosomal recessive syndrome with absence of the distal phalanges of the toes and fingers, renal defect and cerebral anomalies (dilated ventricles or seizures). Two unrelated children affected by this syndrome enable us to accept its autonomy and delineate its nosology. Variability of the expression of the renal and cerebral manifestations is emphasized.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
6/26. The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation.patients affected by Pfeiffer syndrome generally present with syndromic craniosynostosis and typical limb defects including broad thumbs, wide halluces with varus deformity, toe syndactyly and sometimes elbow ankylosis. This autosomal dominant condition can be caused by mutations in either fibroblast growth factor receptor gene type 1 or 2 (FGFR1 or FGFR2). We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome. In one family this was the only abnormality.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
7/26. Macrodystrophia lipomatosa: a reconstructive approach to gigantism of the foot.Localized gigantism poses a challenging surgical dilemma, and it may be treated with amputation. This case report documents the application of a reconstructive approach to a severe case of pedal macrodystrophia lipomatosa in a 1-year-old girl. A series of 3 surgeries were designed to reduce the length, width, height, and overall bulk of the congenitally enlarged foot. The 3 procedures debulked the foot for normal ambulation and same-size shoe wear for both feet. The resulting functional and aesthetic improvements achieved through reconstructive treatment provided a desirable alternative to amputation.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
8/26. Adams-Oliver syndrome and hepatoportal sclerosis: occasional association or common mechanism?Adams-Oliver syndrome (AOS) is characterized by the association of scalp and skull defects and abnormalities of terminal limbs. Congenital heart malformations have also been reported. Hepatoportal sclerosis (HPS) is a rare cause of portal hypertension in children characterized by abnormalities of intra-hepatic portal veins, portal fibrosis, and nodular regeneration. Etiopathogenesis of these rare disorders remains unclear, but the hypothesis of vascular thrombotic mechanism has been suggested. association of both syndromes has been reported in only one child. We now report on two unrelated children with AOS and HPS, one child harboring a factor v Leiden mutation. We hypothesize that the association of both disorders may not be fortuitous and reinforces the idea that AOS and HPS may share a vascular thrombotic mechanism.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
9/26. Lobster-claw syndrome.Lobster-Claw syndrome is a rare autosomal dominant, hand-foot malformation with Oro-dental features. This is a rare condition and from the available reports so far, cases being reported are less than 1%. Most reports have focused on the hand-foot deformity of this syndrome. This paper highlights the typical Oro-dental features associated with this syndrome such as retained deciduous teeth, hypodontia and variation in crown size, arch length and arch width.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
10/26. anodontia as the sole clinical sign of the ectrodactyly-ectodermal dysplasia-cleft lip (EEC) syndrome.In this report we present another family with oligosymptomatic expression of the EEC syndrome. A mother with complete absence of the permanent teeth had two children with split hand/split foot deformity, as typically seen in the EEC syndrome. cleft lip/cleft palate was also present in one of them. The great variability in expression of this autosomal dominant syndrome is discussed and the difficulties in genetic counseling are emphasized.- - - - - - - - - - ranking = 1keywords = size (Clic here for more details about this article) |
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