No abstract available.
Nail-Patella Syndrome*

No abstract available.
Nail-Patella Syndrome*

Nail-patella syndrome is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns, and dysplasia or dislocation of the elbow. We experienced a case of nail-patella syndrome. NPS is a relatively uncommon disease; however, an understanding of the typical radiologic findings is useful in establishing the diagnosis and guiding the treatment.
Animals ; Diagnosis ; Dislocations ; Elbow ; Horns ; Nail-Patella Syndrome* ; Patella

Bilateral absence of the patella as an isolated congenital abnormality is an extremly rare condition. Three members in a family were found to be afflicted with the condition. Clinical examination failed to reveal any stigmata of hereditary osteo-onychodysplasia.
Christianity ; Congenital Abnormalities ; Humans ; Nail-Patella Syndrome ; Patella

Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, also known as iliac horns. It results from a heterogenous loss of function or mutations in the transcription factor (LMX1b). Herein, we report a rare case of nail-patella syndrome in an 18 month-old female.
Animals ; Dislocations ; Female ; Head ; Horns ; Humans ; Infant ; Nail-Patella Syndrome* ; Nails ; Patella ; Transcription Factors

Nail-patella syndrome is a relatively rare autosomal dominant disorder characterized by dysplastic nail, hypoplastic or absent patella, and dislocation of radial head and iliac horns. In addition, renal abnormalities have been reported. The usual clinical signs of the renal involvement are asymptomatic proteinuria, microscopic hematuria, and in some cases progression to end stage renal disease. We present the case of adult with nail-patella syndrome, who developed proteinuria. Electron microscopy revealed irregular thickening of the glomerular basement membrane with areas of rarefaction, giving rise to a pathognomonic "moth-eaten" appearance.
Adult ; Animals ; Dislocations ; Glomerular Basement Membrane ; Head ; Hematuria ; Horns ; Humans ; Kidney Failure, Chronic ; Microscopy, Electron ; Nail-Patella Syndrome* ; Patella ; Proteinuria

The nail-patella syndrome is a genetically determined autosomal dominant disease with variabIe expression affectiag tissues of both ectodermal and mesodermal origin. The condition in an individual is characterized chiefly by dysplasia of the fingernails, hypoplastic or absent patellae, deformities or luxation af the head of the radius, and the presence of illiac horns. It is now well established that the locus for the nail-patella syndrome and the locus for the ABO blood groups are closely linked. We report 2 cases of nail-patella syndrome affected a brother and a sister in a family. Our 2 cases, with blood group B, showed dystrophic nails and hypoplastir. patellae.
Animals ; Blood Group Antigens ; Congenital Abnormalities ; Ectoderm ; Head ; Horns ; Humans ; Mesoderm ; Nail-Patella Syndrome ; Nails ; Patella* ; Radius ; Siblings

The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance. A 17-year-old girl visited our clinic for the evaluation and treatment of proteinuria. She had dystrophic nails, palpable iliac horns, and hypoplastic patellae. Electron microscopy of a renal biopsy showed irregular thickening of the glomerular basement membrane. A family history over three generations revealed five affected family members. Genetic analysis found a change of TCG to TCC, resulting in a synonymous alteration at codon 219 in exon 4 of the LMX1B gene in two affected family members. The same alteration was not detected in an unaffected family member. This is the first report of familial nail-patella syndrome associated with an LMX1B in Korea mutation, However, we can not completely rule out the possibility that the G-to-C change may be a single nucleotide polymorphism as this genetic mutation cause no alteration in amino acid sequence of LMX1B.
Adolescent ; Female ; Homeodomain Proteins/*genetics ; Humans ; *Mutation ; Nail-Patella Syndrome/*genetics/pathology ; Transcription Factors/*genetics

OBJECTIVE: To carried out prenatal diagnosis and genetic analysis for a case with Nail-patella syndrome. METHODS: Based on the clinical phenotype and prenatal imaging, genetic testing and prenatal diagnosis were carried out through whole exome sequencing (WES) and Sanger sequencing. RESULTS: Analysis of amniotic fluid showed that the fetus has carried a heterozygous c.139+1G>T splicing site variant [Chr9(GRCh37): g.129376868G>T] of the LMX1B gene, which was verified by Sanger sequencing. The same heterozygous variant was found in the pregnant woman, her daughter and her mother but not in her husband. Searching of HGMD database showed that the c.139+1G>T was previously unreported. CONCLUSION Nail-patella syndrome is an autosomal dominant genetic disorder with various clinical manifestations. WES is helpful for its genetic and prenatal diagnosis.
Female ; Heterozygote ; Humans ; Mutation ; Nail-Patella Syndrome/genetics* ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Whole Exome Sequencing

PURPOSE: Despite a high frequency of acquired nail disease, congenital absence of the nail, also called as anonychia, is a rare anomaly. It may be seen as an isolated of phalangeal bone(ectrodactyly), nail-patella syndrome, birth trauma, impaired peripheral circulation, alopecia areata, and pemphigus, idiopathic atrophy of the nail, bullous drug eruptions, periodic shedding, lichen planus, Stenvens-Johnson syndrome and so forth. METHODS: We have experienced a rare case of 40-day-old neonate, suffering from intrauterine growth retardation, but without familial history, chromosomal anomalies or any other diseases. RESULTS: There was no nail on left 5th finger and distal phalangeal bone of same finger. So, We diagnosed as Congenital Anonychia with ectrodactyly of 5th Finger. CONCLUSION: We report this case as congenital anonychia of 5th finger which have developed from underlying distal phalangeal ectrodactyly. We also review other reported cased in the literatures.
Alopecia Areata ; Atrophy ; Drug Eruptions ; Fetal Growth Retardation ; Fingers* ; Humans ; Infant, Newborn ; Lichen Planus ; Nail Diseases ; Nail-Patella Syndrome ; Parturition ; Pemphigus