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Polydactyly

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https://www.readbyqxmd.com/read/29321360/ellis-van-creveld-syndrome-and-profound-deafness-resulted-by-sequence-variants-in-the-evc-evc2-and-tmc1-genes
#1
Muhammad Umair, Heide Seidel, Ishtiaq Ahmed, Asmat Ullah, Tobias B Haack, Bader Alhaddad, Abid Jan, Afzal Rafique, Tim M Strom, Farooq Ahmad, Thomas Meitinger, Wasim Ahmad
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 located in head-to-head arrangement on chromosome 4p16 are the causative genes for EvC syndrome. In the study, we present two families, A and B, with Pakistani and Republic of Kosovo origin, respectively. They showed features of EvC syndrome and were clinically and genetically characterized...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29318530/a-novel-heterozygous-gli2-mutation-in-a-patient-with-congenital-urethral-stricture-and-renal-hypoplasia-dysplasia-leading-to-end-stage-renal-failure
#2
Toshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia...
January 9, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29313380/an-on-top-plasty-reconstruction-for-complicated-radial-polydactyly
#3
Brian P Kelley, Carrie Kubiak, Kevin C Chung
BACKGROUND: The clinical presentation of radial polydactyly can vary greatly. Careful planning and appreciation of the anatomic subtleties provides alternative surgical options to improve patient outcomes. METHODS: We present a case of a well-formed accessory web space thumb and a hypoplastic primary thumb. RESULTS: Rather than excising the accessory digit, we performed a spare-part, on-top-plasty reconstruction to replace the diminutive distal phalanx of the primary thumb...
January 1, 2018: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/29298444/human-malformation-syndromes-of-defective-gli-opposite-phenotypes-of-2q14-2-gli2-and-7p14-2-gli3-microdeletions-and-a-glia-r-balance-model
#4
Yo Niida, Mika Inoue, Mamoru Ozaki, Etsuko Takase
GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 GLI genes are known, and GLI2 (2q14.2) and GLI3 (7p14.1) mutations cause different syndromes. Here, we present 2 distinctive cases with a chromosomal microdeletion in one of these genes. Patient 1 is a 14-year-old girl with Culler-Jones syndrome. She manifested short stature, cleft palate, and mild intellectual/social disability caused by a 6...
January 4, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29280874/thenar-dysplasia-in-radial-polydactyly-depends-on-the-level-of-bifurcation
#5
Susumu Saito, Maho Ueda, Mai Murata, Shigehiko Suzuki
BACKGROUND: Little is known about thenar dysplasia in radial polydactyly, other than that thenar hypoplasia occasionally occurs in radial polydactyly with triphalangism. In particular, the phenotype and level of duplication associated with thenar dysplasia remain unclear. METHODS: The abductor pollicis brevis and flexor pollicis brevis muscles were visualized using three-dimensional ultrasound, and their horizontal geometry was assessed using a biaxial level classification system...
January 2018: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29259721/characterization-of-polydactyly-derived-chondrocyte-sheets-versus-adult-chondrocyte-sheets-for-articular-cartilage-repair
#6
Miki Maehara, Masato Sato, Eriko Toyoda, Takumi Takahashi, Eri Okada, Tomomi Kotoku, Masahiko Watanabe
Background: We previously conducted a first-in-human clinical study of articular cartilage repair using autologous chondrocyte sheets and confirmed the regeneration of hyaline-like cartilage in all eight patients. However, regenerative medicine with autologous chondrocyte sheets requires the harvesting of tissue from healthy regions, and the quality of this tissue varies between individuals. To overcome such limitations, allogeneic transplantation is a promising treatment method, particularly for articular cartilage repair...
2017: Inflammation and Regeneration
https://www.readbyqxmd.com/read/29250684/a-rare-case-of-meckel-gruber-syndrome
#7
Daniela Veronica Chiriac, Lavinia Maria Hogea, Ana Cristina Bredicean, Robert Rednic, Laura Alexandra Nussbaum, Gheorghe Bogdan Hogea, Mirela Loredana Grigoraş
Meckel-Gruber syndrome (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral polycystic kidney, postaxial polydactyly. The incidence is between 1÷13 250 and 1÷140 000 live births, being a rare anomaly. We report a MKS case of feminine gender diagnosed on two ultrasound findings (bilateral polycystic kidney, occipital meningoencephalocele). This case highlights the presence of MKS in a young female without family history...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29241935/identification-of-a-c-544c-t-mutation-in-wdr34-as-a-deleterious-recessive-allele-of-short-rib-polydactyly-syndrome
#8
Shu-Han You, Yun-Shien Lee, Chueh-Pai Lee, Chih-Peng Lin, Chiao-Yun Lin, Chia-Lung Tsai, Yao-Lung Chang, Po-Jen Cheng, Tzu-Hao Wang, Shuenn-Dyh Chang
OBJECTIVE: Single-nucleotide polymorphism (SNP) microarrays and whole-exome sequencing (WES) are tools to precisely diagnose rare autosomal recessive (AR) diseases. In this study, SNP chip and WES were used to identify a mutated location in WDR34 in a baby born to consanguineous parents. CASE REPORT: The baby, born at 36 gestational weeks had a small thoracic cage, symmetric short proximal bones, and polydactyly. Radiography showed short ribs with reduced lung volume and pulmonary opacities, compatible with asphyxiating thoracic dystrophy or short rib-polydactyly syndrome (SRPS)...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29234185/ellis-van-creveld-with-an-unusual-dental-anomaly-a-case-report
#9
Suzanne Tanya Nethan, Shruti Sinha, Sunira Chandra
The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal recessive disorder with variable expressions, due to the mutation of the EVC syndrome 1 and 2 genes, which are located on chromosome 4p16...
September 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29229899/phenotypic-variation-in-patients-with-homozygous-c-1678g-t-mutation-in-evc-gene-report-of-two-mexican-families-with-ellis-van-creveld-syndrome
#10
Marisol Ibarra-Ramirez, Luis Daniel Campos-Acevedo, Jose Lugo-Trampe, Laura E Martínez-Garza, Víctor Martinez-Glez, María Valencia-Benitez, Pablo Lapunzina, Víctor Ruiz-Peréz
BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a few cases caused by mutations in WDR35.  CASE REPORT Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome...
December 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29204208/pallister-hall-syndrome
#11
Sadanandvalli Retnaswami Chandra, Mane Maheshkumar Daryappa, M A Mukheem Mudabbir, M Pooja, A Arivazhagan
Polydactyly is a relatively common abnormality in infants. However, it can be a marker of a wide variety of neurological and systemic abnormality. Hence, it is important for pediatrician and physician to have insight into the various association of this apparently innocuous anomaly. In this write-up, we report an extremely rare syndrome associated with polydactyly that is Pallister-Hall syndrome. A 10-month-old male child born by lower segment cesarean section presented with global delay associated with microcephaly, frontal bossing, hypertelorism, flat nose, short philtrum, incomplete cleft in the upper lip and hard palate, polydactyly, and syndactyly...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29198566/pseudotyped-baculovirus-is-an-effective-gene-expression-tool-for-studying-molecular-function-during-axolotl-limb-regeneration
#12
Catarina R Oliveira, Regis Lemaitre, Akira Tazaki, Prayag Murawala, David N Drechsel, Elly M Tanaka
Axolotls can regenerate complex structures through recruitment and remodeling of cells within mature tissues. Accessing the underlying mechanisms at a molecular resolution is crucial to understand how injury triggers regeneration and how it proceeds. However, gene transformation in adult tissues can be challenging. Here we characterize the use of pseudotyped baculovirus (BV) as an effective gene transfer method both for cells within mature limb tissue and within the blastema. These cells remain competent to participate in regeneration after transduction...
October 12, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29197504/gata6-restricts-isl1-to-the-posterior-of-nascent-hindlimb-buds-through-isl1-cis-regulatory-modules
#13
Naoyuki Tahara, Ryutaro Akiyama, Joshua W M Theisen, Hiroko Kawakami, Julia Wong, Daniel J Garry, Yasuhiko Kawakami
Isl1 is required for two processes during hindlimb development: initiation of the processes directing hindlimb development in the lateral plate mesoderm and configuring posterior hindlimb field in the nascent hindlimb buds. During these processes, Isl1 expression is restricted to the posterior mesenchyme of hindlimb buds. How this dynamic change in Isl1 expression is regulated remains unknown. We found that two evolutionarily conserved sequences, located 3' to the Isl1 gene, regulate LacZ transgene expression in the hindlimb-forming region in mouse embryos...
November 29, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29166577/cell-cycle-related-kinase-regulates-mammalian-eye-development-through-positive-and-negative-regulation-of-the-hedgehog-pathway
#14
Floria I Lupu, Jacob B Burnett, Jonathan T Eggenschwiler
Cell cycle-related kinase (CCRK) is a conserved regulator of ciliogenesis whose loss in mice leads to a wide range of developmental defects, including exencephaly, preaxial polydactyly, skeletal abnormalities, and microphthalmia. Here, we investigate the role of CCRK in mouse eye development. Ccrk mutants show dramatic patterning defects, with an expansion of the optic stalk domain into the optic cup, as well as an expansion of the retinal pigment epithelium (RPE) into neural retina (NR) territory. In addition, Ccrk mutants display a shortened optic stalk...
November 19, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29159890/whole-exome-sequencing-reveals-a-mutation-in-armc9-as-a-cause-of-mental-retardation-ptosis-and-polydactyly
#15
Anjana Kar, Shubha R Phadke, Aneek Das Bhowmik, Ashwin Dalal
Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G>A) which leads to a splicing defect in ARMC9 gene...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159873/orthopaedic-manifestations-within-the-22q11-2-deletion-syndrome-a-systematic-review
#16
Jelle F Homans, Isabel N Tromp, Dino Colo, Tom P C Schlösser, Moyo C Kruyt, Vincent F X Deeney, Terrence B Crowley, Donna M McDonald-McGinn, René M Castelein
The 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion syndrome with an estimated prevalence of 1:4,000 live births. 22q11.2DS is known to have wide phenotypic variability, including orthopaedic manifestations. The purpose of this systematic review is to increase the awareness of orthopaedic manifestations associated with 22q11.2DS. This systematic review was performed according to the PRISMA Guidelines. Original epidemiological studies on the prevalence of orthopaedic manifestations within 22q11...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29135725/firm-elevation-of-reconstructed-auricle-using-polydactyly-digit-in-microtia
#17
Suk Yoon Jang, Woo Seob Kim, Han Koo Kim, Tae Hui Bae
Total ear reconstruction for microtia is usually accomplished in 2 stages which is known as Nagata technique. After framework fabrication and implantation, the elevation procedure is required as a second step surgery. The authors are introducing a novel material for augmenting projection of rib cartilage framework in microtia treatment.
November 9, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#18
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29106787/familial-pallister-hall-in-adulthood
#19
(no author information available yet)
Pallister Hall syndrome is autosomal dominant disorder usually diagnosed in infants and children. Current diagnostic criteria include presence of hypothalamic hamartoma, post axial polydactyly and positive family history, but the disease has variable manifestations. Herein we report Pallister Hall syndrome diagnosed in a family where both patients were adults. A 59 year old man developed seizures 4 years prior to our evaluation of him, at which time imaging showed a hypothalamic hamartoma. The seizures were controlled medically...
October 6, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/29105022/homozygous-dkk1-knockout-mice-exhibit-high-bone-mass-phenotype-due-to-increased-bone-formation
#20
Michelle M McDonald, Alyson Morse, Aaron Schindeler, Kathy Mikulec, Lauren Peacock, Tegan Cheng, Justin Bobyn, Lucinda Lee, Paul A Baldock, Peter I Croucher, Patrick P L Tam, David G Little
Wnt antagonist Dkk1 is a negative regulator of bone formation and Dkk1 (+/-) heterozygous mice display a high bone mass phenotype. Complete loss of Dkk1 function disrupts embryonic head development. Homozygous Dkk1 (-/-) mice that were heterozygous for Wnt3 loss of function mutation (termed Dkk1 KO) are viable and allowed studying the effects of homozygous inactivation of Dkk1 on bone formation. Dkk1 KO mice showed a high bone mass phenotype exceeding that of heterozygous mice as well as a high incidence of polydactyly and kinky tails...
November 6, 2017: Calcified Tissue International
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