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546 Possible Causes for AND, HYPOPLASIA, MANDIBULAR, Split foot, SPLIT HAND, WITH

Did you mean: AND, HYPOPLASIA, MANDIBULAR, Split foot, hate, WITH

  • Foot Deformity

    We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia.[ncbi.nlm.nih.gov] A intermarried consanguineous family with split-hand and -foot deformity occurring in two sibship is presented.[ncbi.nlm.nih.gov] In this case the deformity was associated with deafness, mandibular retrognathia and congenital bilateral temporomandibular joint luxation.[ncbi.nlm.nih.gov] A case of congenital cleft foot deformity, also known as lobster claw or split foot, is presented. The condition is rare.[ncbi.nlm.nih.gov] In addition to the classic tetrad of fingernail and toenail dysplasia, patellar aplasia, iliac horns, and radial head hypoplasia and dislocation, she also had scoliosis, proteinuria[ncbi.nlm.nih.gov] Additional malformations may be distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, hypoplastic big toes[ncbi.nlm.nih.gov]

    Missing: AND WITH
  • Amelogenesis Imperfecta

    Our objective was to identify the genetic etiology of enamel hypoplasia in a Caucasian proband. Our hypothesis was that ENAM was defective.[ncbi.nlm.nih.gov] We report on a mother and son who were affected with split hand-split foot (formerly described as ectrodactyly), ectodermal dysplasia, hyperpigmentation of skin, and dystrophic[ncbi.nlm.nih.gov] Initially, the posterior crossbite, mandibular shift, and facial asymmetry were treated orthodontically.[ncbi.nlm.nih.gov] This rare ectodermal defect leads to a variety of clinical manifestations due to agenesis, hypoplasia, and/or hypomineralisation of the enamel.[ncbi.nlm.nih.gov] […] examination revealed a reduction of enamel thickness on the crown of all erupted and unerupted teeth, agenesis of the maxillary right second premolar, delayed eruption of mandibular[ncbi.nlm.nih.gov] Composite resin reconstruction of all permanent incisors and mandibular primary canines was complicated by the poor quality of enamel.[ncbi.nlm.nih.gov]

    Missing: AND WITH
  • Cleft Lip

    Articles reporting prospective and retrospective studies that included patients 16 years old (N 6) who had received DO surgery for correction of a midfacial hypoplasia due[ncbi.nlm.nih.gov] We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post-delivery examination showed split hand and foot malformation,[ncbi.nlm.nih.gov] Although there was labioversion of the maxillary incisor (ΔU1 to SN, 4.1 degree, P   0.05), the mandibular incisor did not exhibit significant linguoversion (ΔIMPA, -1.3 degree[ncbi.nlm.nih.gov] FBXO8, a gene of unknown function, is a member of the F-box gene family, among which FBXW4, within the minimal duplicated region associated with human split-hand/foot malformation[ncbi.nlm.nih.gov] She was unhappy with the unattractive appearance of her maxillary anterior teeth, which were behind her mandibular anterior teeth.[ncbi.nlm.nih.gov] Cleft Lip Cleft Maxillary Hypoplasia Cleft Nasal Deformity Cleft Palate[rchsd.org]

    Missing: AND WITH
  • Ectrodactyly

    , bronchial stenosis/hypoplasia, and coarctation of the aortic arch.[ncbi.nlm.nih.gov] Keywords: Autosomal recessive, split-hand/split-foot malformation, syndactyly Introduction Split-hand/split-foot malformation (SHFM)/ectrodactyly, also known as “lobster claw[ncbi.nlm.nih.gov] Figure 6: Glass ionomer cement (GIC) restorations in the maxillary arch (right), stainless steel crown and GIC restorations in the mandibular arch (left) Click here to view[jisppd.com] Chromosomal region 7q21.3 comprises approximately 5.2 mega base pairs that include genes DLX5/6, SHFM1, and DYNC1I1 associated with split hand/split foot malformation 1.[ncbi.nlm.nih.gov] Here, pedodontist will play an important role in preserving primary dentition which will encourage maxillary and mandibular growth.[contempclindent.org] The sonographic findings were bilateral split hands and split foot. Diagnosis of typical isolated ectrodactyly was pathologically confirmed.[ncbi.nlm.nih.gov]

    Missing: AND WITH
  • Robinow Syndrome

    RS is characterized by hypertelorism, midface, and mandibular hypoplasia.[ncbi.nlm.nih.gov] Fourteen cases of Robinow syndrome are described with special emphasis on dermatoglyphics and hand malformations (split hands were detected in two, ectrodactyly with nail[ncbi.nlm.nih.gov] Foot Malformation Ugur, 2008 WNT10B Oligodontia Yu, 2016 WNT16 Bone density Zheng et al, 2012 DVL1 Robinow Syndrome.[web.stanford.edu] Robinow syndrome, originally described in 1969, consists of mesomelic brachymelia, short stature, genital hypoplasia and characteristic facies.[ncbi.nlm.nih.gov] Besides typical orodental findings, she also had root malformation in mandibular incisors, which is unusual finding of recessive type of Robinow syndrome.[ncbi.nlm.nih.gov] Robinow syndrome: fourteen cases with special emphasis on dermatoglyphics of ten and hand malformations (split hand) of three of them. (Abstract) Am. J. Hum.[med2000eco.it]

    Missing: AND WITH
  • Ectodermal Dysplasia

    […] needs of a 17-year-old patient afflicted with ectodermal dysplasia, chronic long-term immunosuppression, cleft palate, velopharyngeal insufficiency, hypernasality, maxillary hypoplasia[ncbi.nlm.nih.gov] Jackson Park Road, L103 Portland, OR 97201-3098 (503) 494-6966 Researchers are conducting a genetic study to investigate the relationship between Ectodermal Dysplasia and Split-Hand[rarediseases.org] Oral manifestations included oligodontia, maxillary and mandibular atrophy, mandibular alveolar ridge with knife-edge morphology, and conical teeth.[ncbi.nlm.nih.gov] EEC is also characterized by split hand/split foot (or "lobster claw") malformations and genitourinary anomalies.[encyclopedia.com] The skin may be extremely dry due to underdevelopment (hypoplasia) or absence (aplasia) of oil-secreting glands (sebaceous glands).[rarediseases.org] Both siblings' mandibular arches were restored with screw-retained implant-supported prostheses.[ncbi.nlm.nih.gov]

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  • Syndactyly

    Radiological examination of the right leg revealed tibial hypoplasia and the right foot displayed 8 digits with corresponding metatarsals and tarsals, whereas the left leg[ncbi.nlm.nih.gov] Among these, split-hand/foot malformation is an ectrodactyly with missing central fingers, yielding a lobster claw-like hand, which when combined with long-bone deficiency[ncbi.nlm.nih.gov] Careful clinical re-evaluation revealed a type of ODDD, characterised by the predominance of facial and ophthalmological involvement with mandibular retrognathism, and by[ncbi.nlm.nih.gov] The shape of the mandibular second premolar and first permanent molar resembled that of the mandibular second primary molar and mandibular second permanent molar, respectively[tiptiktak.com] The expression of this presumed autosomal recessive disorder is variable and has been confused with split hand foot malformation (SHFM).[ncbi.nlm.nih.gov] 38 weeks after a complication of oligohydramnios, had a more severe presentation, demonstrating toe syndactyly, telecanthus, anal stenosis, clitoromegaly, bilateral renal hypoplasia[ncbi.nlm.nih.gov]

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  • Split Hand-Split Foot Malformation Type 1

    In particular, limb malformations are often associated with urogenital developmental abnormalities, as the case for Hand-foot-genital syndrome displaying similar hypoplasia[ncbi.nlm.nih.gov] Keywords: Congenital, malformation, median cleft, split hand How to cite this article: Kortor NJ, Yongu WT, Elachi IC, Mue DD. Split-hand/Split-foot malformation.[njps.org] Splenomegaly Split hand foot malformation Split hand foot malformation 1 Split hand malformation Split hand split foot malformation autosomal recessive Split hand split foot mandibular[diseaseinfosearch.org] Split-hand/split-foot malformation: A genetic malformation syndrome of the limbs with syndactyly, median clefts of the hands and feet, and aplasia (failure of development) and/or hypoplasia[medicinenet.com] […] definition Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia[orpha.net] Split-hand/split-foot malformation (SHFM). Asian J Med Sci 2014;6:122-3. 4. Duijf PH, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation.[jmgims.co.in]

    Missing: AND WITH
  • Rieger Syndrome

    To our knowledge, unilateral inferior rectus muscle hypoplasia has not been described previously in a patient with Axenfeld-Rieger syndrome.[ncbi.nlm.nih.gov] Microdontia Hypodontia Short Stature Oligodontia-Colorectal Cancer Syndrome Pinheiro Freire-Maia Miranda Syndrome Schopf-Schulz-Passarge Syndrome Single Upper Central Incisor Split-Hand[rgd.mcw.edu] […] first and second molars, and the mandibular canines.[ncbi.nlm.nih.gov] In a masked study, chromosome changes in patients with iris hypoplasia (duplication) and Axenfeld-Rieger syndrome (deletion) were unequivocally distinguished from controls[ncbi.nlm.nih.gov] Duchenne-Muskeldystrophie DMD Dyskeratosis Congenita TINF2, TERC, TERT Dystonie TOR1A, ATP1A3, GCH1, SGCE, THAP1, TH, GNAL Ectodermal dysplasia 2, Clouston type GJB6 Ectrodactyly,Split[meduniwien.ac.at] The patient's mother had decreased vision in her right eye, a history of congenitally missing teeth, and surgery for repair of maxillary and mandibular hypoplasia.[karger.com]

    Missing: AND WITH
  • Multiple Congenital Anomalies

    […] of the corpus callosum, and hypoplasia of the cerebellar vermis.[ncbi.nlm.nih.gov] […] polydactyly syndrome Short-rib thoracic dysplasia SHORT syndrome Simpson-Golabi-Behmel syndrome Sjogren-Larsson syndrome Smith-Magenis syndrome Smith-McCort dysplasia SNP array Split[genomediagnosticsnijmegen.nl] Realini Lupsa, medic stomatolog *Anomaliile dento-maxilare de numar si eruptie *Compresia de maxilar si grupa prognatiilor mandibulare Anomaliile dento-maxilare (An.D.M.)[revistagalenus.ro] , hypoplasia of bones and hydrocephalus.[ncbi.nlm.nih.gov] We report on a fetus with multiple congenital anomalies including atypical lissencephaly, corpus callosum agenesis, cerebellar hypoplasia, cleft palate, ventricular septal[ncbi.nlm.nih.gov] We describe a patient with multiple congenital anomalies including deafness, lacrimal duct stenosis, strabismus, bilateral cervical sinuses, congenital cardiac defects, hypoplasia[ncbi.nlm.nih.gov]

    Missing: AND WITH