Zimmermann laband syndrome in a patient with severe mental retardation. Most children with this disorder have abnormally large gums gingival fibromatosis. Toolcentric enhancements are made to the features provided by bug tracking systems. 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. Expanding the phenotype of gingival fibromatosismental. Zimmermannlaband syndrome is a rare autosomal dominant disorder that is characterized by gingival fibromatosis, ear, nose, bone, and nail defects, and hepatosplenomegaly. One cause involves areas of the skin that are transforming from the small vellus type to the larger terminal type. 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. Zimmermann laband syndrome an extremely rare autosomal dominant omim. Zimmermanlaband syndrome is inherited in an autosomal dominant pattern.
This case report describes the clinical presentation and periodontal findings in a. Zimmermannlaband syndrome zls is an extremely rare autosomal dominant congenital disorder. 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. Laband syndrome nord national organization for rare. 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. However, only the cin members participate in bonuses. Whole genome sequencing was carried out on dna samples of the proband and his. 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.
The excess growth of hair occurs in areas of the skin with the. These carriers of mosaic kcnh1 pathogenic variants typically have isolated seizures with no additional features of templebaraitser syndrome 2. 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. Ive moved the article and amended the list accordingly. If not, set a 600 s delay before prewetting the sensors. Candidate loci for zimmermannlaband syndrome at 3p14. 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. 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. Pdf zimmermanlaband syndrome in a patient with severe. Mhmd is governed by a board of 20 physicians who meet every other month.
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. Gainoffunction mutations in kcnn3 encoding the small. Zimmermann laband syndrome zls is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal. The term zimmermannlaband was coined by carl jacob witkop in 1971. The defective gene involved in zimmermanlaband syndrome has been tentatively localised to chromosome 3p14. Mutations in this gene were recently found to be responsible for templebaraitser syndrome tmbts and zimmermann laband syndrome zls. Mutations in kcnh1 and atp6v1b2 cause zimmermannlaband. 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. Hypoplastic or absent nails, mild hair loss, and mental retardation are seen in some cases. Capturing the interaction kinetics of an ion channel protein. Zimmermann laband syndrome is an inherited disease characterized by extensive gingival enlargement and abnormalities of the head, face, hands, feet, nose, and ears. Clinical and genetic study of two patients with zimmermann. Hypertrichosis can be either congenital present at birth or acquired later in life.
Rose6, remy hobeika1, yvette macary1, ramzi temanni2, puthen v. The majority of the mutants lie on or near the surface of subunits and likely affect subunit interactions left and middle. Zimmermannlaband syndrome associated with a balanced. Complex intrachromosomal rearrangement in 1q leading to 1q32. International journal of paediatrics dentistry 2004. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Most children with this disorder have generalized hypertrichosis, large gingivae, and hypoplasia of the fingernails and. 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. 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. Jbr journal of interdisciplinary medicine and dental science. 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.
Hypertrichosis is an abnormal amount of hair growth over the body. 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. 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. Most patients with this disorder have abnormally large gums gingival fibromatosis. An empirical study on the relation between dependency neighborhoods and failures thomas zimmermann. Hypertrichosis can be either congenital present at birt. A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose andor ears. Dean ii, division of sleep medicine, brigham and womens hospital, 221 longwood avenue, boston, ma 02115. 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. Zimmermannlaband syndrome with bilateral developmental.
An ent, pediatrics, cardiology, and orthopedics consultation was sought. Ijerph free fulltext rare diseases with periodontal. The zimmermann laband syndrome zls is a rare autosomal dominant disorder characterized by gingival hyperplasia or. 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. 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. It is a craniofacial malformation syndrome with predominant intraoral involvement consisting of gingival fibromatosis diffusion in early development. 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. 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. Zimmermannlaband syndrome in an infant with an atypical. Overgrown gums may affect the ability to chew, swallow, andor speak. Zimmermann laband syndrome zls is an extremely rare autosomal dominant congenital disorder. Treatment strategy in goldenhar syndrome request pdf. Molecular bases of zimmermannlaband syndrome core reader.
Report of a case of zimmermannlaband syndrome with new. 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. 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. Zimmermann laband syndrome is an inherited disorder that is characterized by abnormalities of the head, face, hands, and feet. Zimmermannlaband syndrome in a patient with severe mental. Hypertrichosis wikimili, the best wikipedia reader. 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. Tmbts is characterized by intellectual disability id, epilepsy, dysmorphic facial features, broad thumbs and great toes with absenthypoplastic nails. 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. Most children with this disorder have generalized hypertrichosis, large gingivae, and hypoplasia of the fingernails and toenails. Inclusion criteria were periodontally relevant changes to. This study, reports the dental management of one such patient with idiopathic gingival. Read zimmermann laband syndrome associated with a balanced reciprocal translocation t3.
The present paper describes a patient, aged six and half years, with typical features of. 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. They can help to reduce the burden of information collection and provision. Background zimmermannlaband syndrome zls is an extremely rare autosomal dominant congenital disorder. Research article open access templebaraitser syndrome and zimmermannlaband syndrome. Zimmermanlaband syndrome has an autosomal dominant pattern of inheritance. Zimmermann laband syndrome 1 templebaraitser syndrome. Hereditary gingival fibromatosis with distinct dental. Laband syndrome nord national organization for rare disorders.
Laband syndrome genetic and rare diseases information. Recurrence risk for parents of an affected child may depend on their carrier status. A pubmed search was first carried out by using the terms laband syndrome and zimmermann laband syndrome, and identified 34 entries. Having a tight iliotibial band having tight muscles in your hip, pelvis, or leg your legs not being the same length. Somatic mosaicism represents an underestimated event. Laband 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 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. The term zimmermannlaband syndrome was for the first time given by carl jacob witkop. Find support for a specific problem on the support section of our website.
Zimmermanlaband syndrome definition of zimmermanlaband. 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. Universita degli studi di roma tor vergata academic and scientific curriculum of prof. The condition is caused by mutations in a potassium channel gene kcnh1. 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. Pdf zimmermannlaband syndrome in an infant with an. Here, we report a new case of tmbts diagnosed in a lebanese child. Jithesh2, aouatef chouchane7, konduru s sastry7, remy thomas8, sara. Templebaraitser syndrome and zimmermannlaband syndrome.
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. 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. Kcnh1 mutations have recently been described in six individuals with templebaraitser syndrome tmbts and six individuals with zimmermann laband syndrome zls. A subunit of vatpases, atp6v1b2, underlies the pathology of. Set the location of data files and click go to start the assay. Jun 10, 2016 kcnh1 encodes a voltagegated potassium channel that is predominantly expressed in the central nervous system. This change normally occurs during adolescence, when vellus hair follicles in the underarms and groin grow into terminal hair follicles. 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. The object of this paper was to provide an overview of rare diseases rds with periodontal manifestations and allocate them to relevant categories. Deafness, congenital, with onychodystrophy, autosomal dominant.
1078 530 258 481 765 1509 1615 1081 1001 129 1483 1171 1405 723 761 659 853 1162 1170 651 165 786 1397 580 108 1085 157 730 1520 1195 30 1317 917 225 1097 1237 666 1240 1218 962 591 1034 1413 327 1472 1384 826 536