Zimmermann laband syndrome zls is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal. However, only the cin members participate in bonuses. Memorial hermann houston, texas in order to be on the board of mhmd, or on a committee, a physician must be a member of the cin as well as the ipa. Pdf zimmermannlaband syndrome in an infant with an. Set the location of data files and click go to start the assay. Zimmermannlaband syndrome associated with a balanced. Apr 15, 2016 lastly, parents 8 and 9 are parents of an eightyearold boy who was enrolled with a clinical diagnosis of zimmermannlaband syndrome. Laband syndrome, also known as zimmerman laband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial craniofacial area and the hands and feet. Dean ii, division of sleep medicine, brigham and womens hospital, 221 longwood avenue, boston, ma 02115. The defective gene involved in zimmermanlaband syndrome has been tentatively localised to chromosome 3p14. Zimmermannlaband syndrome zls is an extremely rare autosomal dominant congenital disorder.
The zimmermann laband syndrome zls is a rare autosomal dominant disorder characterized by gingival hyperplasia or. Hypertrichosis wikimili, the best wikipedia reader. Inclusion criteria were periodontally relevant changes to. Zimmermanlaband syndrome has an autosomal dominant pattern of inheritance. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. The sensors need prewetted for at least 10 min in sd buffer, if this step has been done, then the delayed experiment start setting should be skipped.
Hypoplastic or absent nails, mild hair loss, and mental retardation are seen in some cases. Zimmermannlaband syndrome is a rare autosomal dominant disorder that is characterized by gingival fibromatosis, ear, nose, bone, and nail defects, and hepatosplenomegaly. Zimmermann laband syndrome is an inherited disease characterized by extensive gingival enlargement and abnormalities of the head, face, hands, feet, nose, and ears. Laband syndrome is a rare autosomal dominant disorder that is characterized by gingival fibromatosis, ear, nose, bone, and nail defects, and hepatosplenomegaly. Hereditary gingival fibromatosis with distinct dental. Zimmermann laband syndrome zls is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. Most children with this disorder have generalized hypertrichosis, large gingivae, and hypoplasia of the fingernails and toenails. Zimmermann laband rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, abnormalities of the cartilage of the nose andor ears and developmental delay. Recurrence risk for parents of an affected child may depend on their carrier status. These carriers of mosaic kcnh1 pathogenic variants typically have isolated seizures with no additional features of templebaraitser syndrome 2.
Report of a case with early cardiac complications 1atul p sattur, 1krishna n burde, 2venkatesh g naikmasur, 3megha goyal 1professor, department of oral medicine and radiology, sdm college of dental sciences and hospital, dharwar karnataka, india 2professor and head, department of oral medicine and radiology, sdm college of dental. Over the course of several years, individuals with ndds referred to the outpatient clinic of the institute of human genetics in erlangen were recruited for a multicenter study to identify genetic causes of id and developmental delay german mental retardation network and for followup studies with the same aim. Deafness, congenital, with onychodystrophy, autosomal dominant. Hypertrichosis can be either congenital present at birt. Background zimmermannlaband syndrome zls is an extremely rare autosomal dominant congenital disorder. Mim5500 is a rare developmental disorder\ud characterized by facial dysmorphism, including coarsening of the face, bulbous soft nose, gingival\ud enlargement, nail aplasia or hypoplasia, hypertrichosis, and intellectual disability, with or without\ud epilepsy. Laband syndrome nord national organization for rare. Molecular cytogenetic characterization of the breakpoint regions, american journal of medical genetics on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your.
Laband syndrome nord national organization for rare disorders. Whole genome sequencing was carried out on dna samples of the proband and his. Mhmd is governed by a board of 20 physicians who meet every other month. Mutations in this gene were recently found to be responsible for templebaraitser syndrome tmbts and zimmermann laband syndrome zls. The object of this paper was to provide an overview of rare diseases rds with periodontal manifestations and allocate them to relevant categories.
The present paper describes a patient, aged six and half years, with typical features of. Zimmermann laband syndrome zls is a rare disorder characterized by gingival fibromatosis, hypertrichosis, intellectual disability, and absence andor hypoplasia of the nails or terminal phalanges of the hands and feet. Zimmermanlaband syndrome is inherited in an autosomal dominant pattern. A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening andor elongation of the thumbs and halluces, which have a tubular aspect. Zimmermannlaband syndrome in a patient with severe mental. Zimmermannlaband syndrome in an infant with an atypical. Pdf zimmermanlaband syndrome in a patient with severe. A pubmed search was first carried out by using the terms laband syndrome and zimmermann laband syndrome, and identified 34 entries.
Laband syndrome genetic and rare diseases information. Toolcentric enhancements are made to the features provided by bug tracking systems. Rose6, remy hobeika1, yvette macary1, ramzi temanni2, puthen v. Laband syndrome, also known as zimmermannlaband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial craniofacial area and the hands and feet. Overgrown gums may affect the ability to chew, swallow, andor speak. Zimmermann laband syndrome an extremely rare autosomal dominant omim.
Zimmermann laband syndrome is a rare disorder characterized by gingival fibromatosis, abnormalities of the nose andor ears, absence andor hyperplasia of the nails or terminal phalanges of the hands and feet, hyperextensibility of joints, hepatosplenomegaly, mild hirsutism and mental retardation. Laband syndrome an ad condition characterized by gingival fibromatosis, whittling of terminal phalanges, floppy ears, defective or absent fingernails, joint hypermobility, profound mental retardation laband syndrome. Laband syndrome and profound mental retardation, american journal of medical genetics part a on deepdyve, the largest online rental service for scholarly research with thousands of academic publications available at your fingertips. This means the defective gene is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Abstract about the authors case repor t zimmermann laband syndrome zls. Zimmermann laband syndrome in a patient with severe mental retardation. Capturing the interaction kinetics of an ion channel protein. Kcnh1 mutations have recently been described in six individuals with templebaraitser syndrome tmbts and six individuals with zimmermann laband syndrome zls. Tmbts is characterized by intellectual disability id, epilepsy, dysmorphic facial features, broad thumbs and great toes with absenthypoplastic nails. Laband syndrome, also known as zimmermann laband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial craniofacial area and the hands and feet.
Zimmermanlaband syndrome definition of zimmermanlaband. Read zimmermann laband syndrome associated with a balanced reciprocal translocation t3. A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose andor ears. Zimmermann laband syndrome is an inherited disorder that is characterized by abnormalities of the head, face, hands, and feet. Laband syndrome, also known as zimmermannlaband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial craniofacial area and the.
Report of a case of zimmermannlaband syndrome with new. If not, set a 600 s delay before prewetting the sensors. The excess growth of hair occurs in areas of the skin with the. Having a tight iliotibial band having tight muscles in your hip, pelvis, or leg your legs not being the same length. Ijerph free fulltext rare diseases with periodontal. The next generation of bandages will detect infections, release medicine, and more by aliya barnwell september 19, 2015 when tech and medicine meet, everyone benefits. An empirical study on the relation between dependency neighborhoods and failures thomas zimmermann. If an internal link intending to refer to a specific person led you to this page, you may wish to change that link by adding the persons given names to the link. Zimmermannlaband syndrome is a rare disorder characterized by gingival fibromatosis, abnormalities of the nose andor ears, absence andor hyperplasia of the nails or terminal phalanges of the hands and feet, hyperextensibility of joints, hepatosplenomegaly, mild hirsutism and mental retardation. Iliotibial band syndrome occurs when this band repeatedly rubs over the bump of the thigh bone femur near the knee, causing the band to be irritated.
Zimmermann laband syndrome 1 templebaraitser syndrome. Molecular bases of zimmermannlaband syndrome core reader. This case report describes the clinical presentation and periodontal findings in a. The term zimmermannlaband syndrome was for the first time given by carl jacob witkop. We report a male infant who exhibited typical features of zimmermann laband syndrome with an unusual. Ddod syndrome, which forms the backdrop of the current study, is an autosomal dominant genetic disease that leads to severe congenital sensorineural deafness, absence of.
Zimmermannlaband syndrome zls is a very rare condition characterized by gingival fibromatosis, coarse facial appearance and malformed nails or distal phalanges of handsfeet and sometimes hepatosplenomegaly 1. This study, reports the dental management of one such patient with idiopathic gingival. Most children with this disorder have generalized hypertrichosis, large gingivae, and hypoplasia of the fingernails and. Jithesh2, aouatef chouchane7, konduru s sastry7, remy thomas8, sara. Ive moved the article and amended the list accordingly. Find support for a specific problem on the support section of our website. The majority of the mutants lie on or near the surface of subunits and likely affect subunit interactions left and middle. One cause involves areas of the skin that are transforming from the small vellus type to the larger terminal type. The condition is caused by mutations in a potassium channel gene kcnh1. Research article open access templebaraitser syndrome and zimmermannlaband syndrome. Complex intrachromosomal rearrangement in 1q leading to 1q32. Clinical and genetic study of two patients with zimmermann. Intranasal tooth as a complication of cleft lip and alveolus in a four year old child.
An ent, pediatrics, cardiology, and orthopedics consultation was sought. Hypertrichosis can be either congenital present at birth or acquired later in life. Laband syndrome, also known as zimmermanlaband syndrome, is an extremely rare genetic disorder characterized by abnormalities of the head and facial craniofacial area and the hands and feet. Most patients with this disorder have abnormally large gums gingival fibromatosis. This patient was previously described as an ullrich phenotype, in which mutations in the three col6a genes were excluded by direct sequencing analysis performed on retrotranscribed rna. The syndromic features of zls are highly variable and can overlap with other entities featuring gingival fibrosis. Gainoffunction mutations in kcnn3 encoding the small. Jun 10, 2016 kcnh1 encodes a voltagegated potassium channel that is predominantly expressed in the central nervous system. Kcnh1 encodes a voltagegated potassium channel that is predominantly expressed in the central nervous system. Zimmermannlaband syndrome with bilateral developmental. Zimmermann laband syndrome zls is a rare disorder characterized by gingival hypertrophy, bulbous soft nose and thick, floppy ears, aplasia or dysplasia of nails andor terminal phalanges, hyperextensibility of joints, and, in a small percentage of patients, hepatosplenomegaly. They can help to reduce the burden of information collection and provision. Effect of topical atropine on astigmatism a chia, 1,2wh chua, d tan 1 singapore eye research institute, singapore. Templebaraitser syndrome and zimmermannlaband syndrome.
This change normally occurs during adolescence, when vellus hair follicles in the underarms and groin grow into terminal hair follicles. Universita degli studi di roma tor vergata academic and scientific curriculum of prof. Our aim was to understand how the expected utility to parents who received irr on their child from a genetic research study compared to the actual utility of the irr received. Somatic mosaicism represents an underestimated event. Jbr journal of interdisciplinary medicine and dental science. It is a craniofacial malformation syndrome with predominant intraoral involvement consisting of gingival fibromatosis diffusion in early development. International journal of paediatrics dentistry 2004. Candidate loci for zimmermannlaband syndrome at 3p14. A subunit of vatpases, atp6v1b2, underlies the pathology of. Expanding the phenotype of gingival fibromatosismental. The term zimmermannlaband was coined by carl jacob witkop in 1971. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best.
Purpose much information on parental perspectives on the return of individual research results irr in pediatric genomic research is based on hypothetical rather than actual irr. Zimmermann laband syndrome zls is an extremely rare autosomal dominant congenital disorder. Mutations in kcnh1 and atp6v1b2 cause zimmermannlaband. The parents revealed that the child was diagnosed with zimmermann laband 1 syndrome, associated with a true. Zimmermannlaband syndrome with bilateral developmental cataract a new association. Here, we report a new case of tmbts diagnosed in a lebanese child. Treatment strategy in goldenhar syndrome request pdf.
Hypertrichosis is an abnormal amount of hair growth over the body. Zimmermannlaband syndrome zls is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. Mutations in aforementioned kcnh1 gene are responsible for two syndromes, the templebaraitser mim 611816 and zimmermann laband mim 5500 syndrome 1, both being developmental disorders characterized by severe cognitive and physical abnormalities table 1. Nov 01, 2011 mapping of breakpoints of two translocations t3.
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