A rare case of Meckel Gruber syndrome

Meckel Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder.  It is characterized by triad of features having occipital meningoencephalocele, polycystic kidneys and post-axial polydactyly. We report an antenatal patient detected with occipital meningoencephalocele in foetus on early anomaly scan at 15 weeks of gestation followed by foetal MRI which revealed the typical triad features strongly suggestive of MGS. The patient opted for medical termination of pregnancy and the abortus was autopsied, with the permission of the patient, for detailed evaluation of anomalies which were consistent with MGS. This case highlights the importance of a detailed foetal evaluation antenatally to detect anomalies which are incompatible with life and proper diagnosis as it has bearing on patient’s future obstetric outcome.

Analysis of Congenital Postaxial Polydactyly of the Foot Using Magnetic Resonance Imagings / 대한정형외과학회잡지

PURPOSE: We aimed to evaluate the magnetic resonance imaging (MRI) findings of congenital postaxial polydactyly of the foot. MATERIALS AND METHODS: Three-hundred and forty-seven feet of 288 patients who underwent congenital postaxial polydactyly or polysyndactyly correction were divided into five subtypes according to the radiographic shapes of deformity origins (widened metatarsal head, bifid, fused duplicated, incompletely duplicated, or completely duplicated). MRIs were assessed to determine whether they unrevealed areas were fused or separated. MRI was also used to assess cases with radiographic phalangeal aplasia. RESULTS: Huge variations were noted in MRIs. Fusion or separation at the base or head between original and extra digits were observed, and MRI effectively depicted phalangeal aplastic areas. CONCLUSION: MRI evaluations of congenital postaxial polydactyly of the foot are useful for determining the anatomical statuses which were not visualized by plain radiography (level of evidence: 3).

Postaxial Polydactyly of the Hands and Feet in Monozygotic Twins

Polydactyly is the most common congenital difference of the hand and foot presenting as a range of defects from minor soft tissue duplications to major bony abnormalities. Although polydactyly of the hand is reported to occur among approximately 1 in 1,000 live births, the co-occurrence of hand polydactyly on hands and polydactyly on feet is as rare as one out of 100,000 persons. We report a case of hand and foot polydactyly in twins. One of the twins had polydactyly on both hands and feet, the other had polydactyly on the right hand and both feet. Postaxial polydactyly in monozygotic twins appears on both hands and feet in a different form shows that polydactyly is caused by multiple factors. It has been reported that the mother's infection and drug in addition to hereditary factors are the causes for polydactyly, but since they are unknown yet, it is necessary to conduct a study of them.

Defecto del canal auriculoventricular, aurícula única y atresia tricuspídea como parte de un caso de síndrome de Ellis-Van Creveld / Atrioventricular canal defect, single atrium and tricuspid atresia as part of a case of Ellis-Van Creveld syndrome

El síndrome de Ellis-Van Creveld (SEVC) o displasia condroectodérmica se debe a una mutación de transmisión autosómica recesiva en el brazo corto del cromosoma 4 y afecta múltiples órganos. Descrito como una tétrada clásica de condrodisplasia, displasia ectodérmica, polidactilia y defectos cardíacos congénitos, sólo se conoce a partir de informes y series de casos. Se describe el caso de un varón de 3 meses, sin antecedentes familiares de importancia, que presentó un cuadro de condrodisplasia, labio superior fusionado al paladar, simpolidactilia posaxial bilateral en las manos, displasia del desarrollo de las caderas, tórax estrecho con costillas cortas y compromiso cardíaco. El presente caso sería la primera comunicación del SEVC en el Perú.

Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydactyly and congenital heart defects. It is only known from reports and case series. We present a three months old male, without relevant family history, who presented chondrodysplasia, upper lip merged to palate, bilateral sinpolydactyly in the hands, developmental dysplasia of the hip, narrow chest with short ribs, and heart defects. This case is the first report of EVC in Peruvian literature.

Management of postaxial polydactyly by ‘‘Ksharsutra’’: A minimally invasive Ayurvedic parasurgical procedure.

Polydactyly is a most common congenital hand defects in which the hand has one or more extra fingers, commonly seen postaxial, that is, on the small finger side. It is usually treated by surgically removing the extra finger typically, when the child is between 1 and 2 years old. Prognosis after removal of extra digit is good if it occurs in isolation though not devoid of complications like scar formation, stiffness, instability, and late deformity which may need additional reconstructive surgery to recover full function and improve the hand’s appearance. I have used ‘‘Ksharsutra,’’ an Ayurvedic‑medicated thread coated with herbal alkaline drugs having simultaneous cutting and healing property, to remove extra finger in a child, whose parents were not willing to undergo surgery and asked for alternative treatment. ‘‘Ksahrsutra ligation’’ showed excellent result in postaxial polydactyly. The extra finger started necrosing within 24 hours and sloughed out in just 9 days with minimal scar formation. After observing the prognosis, I believe that more cases should be done to establish and promote this unique parasurgical procedure, ‘‘Ksharsutra’’ in the management of polydactyly.

Bilateral Type III Postaxial Polydactyly: A Case Report

An unusual case is presented as bilateral, complete digital duplication of the hand in a 32-year-old man. Radiographic evaluation showed complete duplication of intact phalanges and metacarpal bones in both hands. Although polydactyly of the hand is reported to occur among approximately 1 in 1000 live births, most of these malformations are rudimentary skin tags. Complete postaxial polydactyly is uncommon; it occurs in approximately 0.014% of all live births. The main goal of the surgical treatment is to establish adequate function and appearance. This case reports the preoperative evaluation and management of bilateral postaxial type III duplication of the fingers.

Acrofacial dysostosis: a case report