Congenital anomalies associated with arthrogry- posis multiple congenita. Características gerais dos pacientes com artrogripose múltipla congênita. Características gerais dos pacientes com artrogripose múltipla congênita estudados. of a group unrelated patients with arthrogryposis multiplex congenita. Polineuropatias hereditárias, síndrome miastênica congênita e miopatias . a rara ocorrência de artrogripose múltipla congênita, evidenciada já ao nascimento.
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To report a rare case of peripheral retinal neovascularization in a patient diagnosed with cutis marmorata telangiectatica congenita CMTC. A year-old girl was referred to clinic for retinal evaluation. The patient had a clinical diagnosis of CMTC later confirmed by skin biopsy.
Examination revealed temporal peripheral retinal sheathing, as well as lattice degeneration in both eyes. Wide-field fluorescein angiogram showed substantive peripheral retinal nonperfusion with evidence of vascular leakage from areas of presumed retinal neovascularization.
The patient subsequently had pan retinal photocoagulation laser treatment to each eye without complication. Cutis marmorata telangiectatica congenita is a rare vascular condition known to affect multiple organ systems including the eyes.
Although ocular manifestations of CMTC are rare, instances of congenital glaucoma, suprachoroidal hemorrhage, and bilateral total retinal detachments resulting in secondary neovascular glaucoma have been reported.
Our patient demonstrates the first reported findings of peripheral nonperfusion and retinal neovascularization related to CMTC in a year-old artgogripose. We propose early retinal examination, wide-field fluorescein angiogram, and early pan retinal photocoagulation laser treatment in patients with peripheral nonperfusion and retinal neovascularization from CMTC. The work cannot be changed in any way or used commercially without permission from the journal.
Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: A female infant presented with Adams-Oliver syndrome AOSintrauterine growth retardation, severe cutis marmorata telangiectatica congenitabilateral congenital cataract, and periventricular lesions.
The here-reported association of bilateral congenital cataract with AOS is original. Adams-Oliver syndrome is a genetic defect that causes a vasculopathy and leads to a variety of phenotypes.
This observation further supports the current understanding of the physiopathology of AOS. Cutis Marmorata Telangiectatica Congenita CMTC is a congenital localized or generalized vascular anomaly, usually sporadic in occurrence. It can be associated with other cutaneous or systemic manifestations. Artrogriposse cases have been reported. The molecular etiology remains largely unknown.
Arthrogryposis – Wikipedia
The main purpose of this study is to delineate the artroyripose basis for a syndromic CMTC phenotype in a consanguineous Saudi family. Clinical phenotyping including detailed neurological imaging, followed by autozygosity mapping and trio whole exome sequencing WES are also studied. We have identified a homozygous truncating mutation in ARL6IP6 as the likely cause of a syndromic form of CMTC associated with major dysmorphism, developmental delay, transient ischemic attacks and cerebral vascular malformations.
This gene was previously implicated by genome wide association study GWAS as a susceptibility locus to ischemic stroke in young adults. This suggests that ischemic stroke or transient ischemic attacks TIA may represent, at artrogriplse in some cases, the mild end of a phenotypic spectrum that has at its severe end autosomal recessive Artrogeipose.
This finding artrogriplse to a growing appreciation of the continuum of Mendelian and common complex diseases.
In some cases, blisters and Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism.
Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.
A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When dyskeratosis congenita is caused by mutations in other genes, it can be inherited in zrtrogripose autosomal dominant or artrovripose recessive pattern.
Autosomal dominant means one Aerobic training in myotonia congenita. Exercise has not been investigated in myotonia congenita MC. We investigated whether regular aerobic training can reduce myotonia and improve fitness.
Untrained patients with MC age: None of the myotonia tests changed in a clinically meaningful way.
Regular endurance training improves fitness and maximal workload performance in patients mltiplw MC. The lack of creatine kinase elevations indicates Incidental finding of cutaneous meningeal heterotopia in aplasia cutis congenita.
Aplasia cutis congenita and cutaneous meningeal heterotopia are both rare congenital conditions that most commonly occur on the scalp and may appear clinically and histologically similar. A subtype of aplasia cutis congenitamembranous aplasia cutis congenitaand cutaneous meningeal heterotopia are both proposed to result arfrogripose neural tube closure errors.
However, neither non-membranous nor membranous aplasia cutis congenita are known to occur together with cutaneous meningeal heterotopia in the same lesion. We report the incidental finding of cutaneous meningeal heterotopia within a lesion of aplasia cutis congenita. Directory of Open Access Journals Sweden. Full Text Available Pachyonychia congenita PC is a rare genodermatosis with only cases reported since It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types.
A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis in palms and soles with maceration and malodour since childhood. She had a positive family history with father and grandfather affected but less severely. Microscopy and culture of nail clippings and scrapping were done to rule out fungal infection. On biopsy acanthotic epidermis, parakeratosis, orthokeratosis were seen. No evidence of any associated malignancy was found after thorough workup.
She was diagnosed as PC Type 1. She was put on topical steroids and orally on acetretin 25 mg OD. She was on a regular treatment for months and showed some improvement in the form of reduced palmoplantar hyperkeratosis and reduced oral punctate keratosis but was later lost on followup. She showed no adverse effect to therapy during this period. This case is being reported because of its rarity. Clouston syndrome can mimic pachyonychia congenita.
We studied three families suffering from nail abnormalities who had previously been diagnosed as pachyonychia congenita. No keratin gene mutations were detected. A cause of lethal neonatal dwarfism. A Report of Two Cases. Full Text Available Oral manifestations play an important role in the diagnosis of many systemic conditions. Dyskeratosis congenita DC is a rare genodermatosis which exhibits oral leukoplakia, nail dystrophy, and reticular skin pigmentations as its primary features.
DC has increased risk of developing constitutional anemias and malignancies and early diagnosis enables the patient to be monitored and proper interventional therapy to be instituted. Hence, dentists need to be aware of the various manifestations of this fatal syndrome. Only few cases have been reported on DC in the dental literature. Two cases of DC are reported here with a brief review of the literature.
Prenatal diagnosis of hypophosphatasia congenita using ultrasonography. Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita.
The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple.
Aplasia cutis congenita ACC is a skin condition of rare presentation, this disease is characterized by absence of skin at birth and associated with facial, skin and bone skull deformities. The diagnosis is mainly clinical. Male 5 days after birth, unique product of primigravida mother and no family history of relevance. Physical examination revealed bilateral and symmetrical skin defects of both lower extremities, the disease is characterized by skin fragility, scabs, and coated pseudomembrane ulcers, decreased interdigital space between toes of the left foot, retraction of the foot and genu varum.
It was handled with allograft of epidermis cultured in vitro, general wound care and clinical follow-up. ACC associated with epidermolysis bullosa is one of the rarer forms of presentation.
It is necessary to rule out other skin diseases. Clinical management is recommended with biological or synthetic skin cover, infection prevention, early treatment of complications and clinical follow. Asymptomatic myotonia congenita unmasked by severe hypothyroidism. Myotonia congenita is an inherited muscle disorder sustained by mutations in the skeletal muscle chloride channel gene CLCN1. Symptoms vary from mild to severe and generalized myotonia and worsen with cold, stressful events and hormonal fluctuations.
Here we report the case of a young woman who sought medical attention because of subacute onset of diffuse and severe limb myotonia. CLCN1 gene sequencing showed a heterozygous transversion TMtwo polymorphisms and one silent mutation. Thyroid function screening revealed severe hypothyroidism. She was placed on l-thyroxine replacement therapy which dramatically improved myotonia.
We conclude that hypothyroidism unmasked a genetically determined, clinically asymptomatic chloride channelopathy.
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Diagnostic work-up in patients with clinically isolated myotonia should not be limited to genetic screening of non-dystrophic or dystrophic myotonias. Considering the high prevalence of hypothyroidism in females, systematic thyroid function screening by looking for additional hypothyroid symptoms and serum TSH levels measurement is mandatory in these patients.
Dyskeratosis congenita in a Nigerian boy Artrogripse Nigerian