Literature DB >> 1227553

New syndrome of skeletal, dental and hair anomalies.

J A Sensenbrenner, J P Dorst, R P Owens.   

Abstract

A Brother and sister are presented with the following abnormalities: dolichocephaly with tendency toward premature closure of the sagittal suture; antimongoloid slant of the eyes with epicanthal folds, full cheeks, everted lip, multiple oral frenula, mildly high-arched palate, and microdontia with possible enamel defect; posteriorly rotated low-set pinnae with deficient cartilage; a small short thorax with pectus excavatum; unusual dermatoglyphics, and abnormal hair growth and stucture; disproportionate shortening of the fibulae and the middle and distal phalanges of the toes and fingers; and somewhat flattened epiphyses. A paternal aunt gave birth to a stillborn dwarfed male with some of the same clinical features. Although an autopsy was obtained, unfortunately no roentgenograms were made.

Entities:  

Mesh:

Year:  1975        PMID: 1227553

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  15 in total

1.  Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

Authors:  Cecilie Bredrup; Sophie Saunier; Machteld M Oud; Torunn Fiskerstrand; Alexander Hoischen; Damien Brackman; Sabine M Leh; Marit Midtbø; Emilie Filhol; Christine Bole-Feysot; Patrick Nitschké; Christian Gilissen; Olav H Haugen; Jan-Stephan F Sanders; Irene Stolte-Dijkstra; Dorus A Mans; Eric J Steenbergen; Ben C J Hamel; Marie Matignon; Rolph Pfundt; Cécile Jeanpierre; Helge Boman; Eyvind Rødahl; Joris A Veltman; Per M Knappskog; Nine V A M Knoers; Ronald Roepman; Heleen H Arts
Journal:  Am J Hum Genet       Date:  2011-10-20       Impact factor: 11.025

Review 2.  Role of Primary Cilia in Odontogenesis.

Authors:  M Hampl; P Cela; H L Szabo-Rogers; M Kunova Bosakova; H Dosedelova; P Krejci; M Buchtova
Journal:  J Dent Res       Date:  2017-06-12       Impact factor: 6.116

3.  Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.

Authors:  Henry Fehrenbach; Christian Decker; Tobias Eisenberger; Valeska Frank; Tobias Hampel; Ulrike Walden; Kerstin U Amann; Ingrid Krüger-Stollfuß; Hanno J Bolz; Karsten Häffner; Martin Pohl; Carsten Bergmann
Journal:  Pediatr Nephrol       Date:  2014-02-07       Impact factor: 3.714

4.  Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Authors:  Christian Gilissen; Heleen H Arts; Alexander Hoischen; Liesbeth Spruijt; Dorus A Mans; Peer Arts; Bart van Lier; Marloes Steehouwer; Jeroen van Reeuwijk; Sarina G Kant; Ronald Roepman; Nine V A M Knoers; Joris A Veltman; Han G Brunner
Journal:  Am J Hum Genet       Date:  2010-09-10       Impact factor: 11.025

5.  Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach.

Authors:  Thomas Quinaux; Viola Custodi; Audrey Putoux; Justine Bacchetta; Massimiliano Rossi; Federico Di Rocco
Journal:  Childs Nerv Syst       Date:  2021-02-19       Impact factor: 1.475

Review 6.  Cranioectodermal dysplasia (Sensenbrenner's syndrome).

Authors:  I D Young
Journal:  J Med Genet       Date:  1989-06       Impact factor: 6.318

7.  Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia.

Authors:  Katsuyuki Obikane; Taiji Nakashima; Yoshihiko Watarai; Ken Morita; Kazutoshi Cho; Hidefumi Tonoki; Michio Nagata; Satoshi Sasaki
Journal:  Pediatr Nephrol       Date:  2006-02-21       Impact factor: 3.714

Review 8.  Skeletal ciliopathies: a pattern recognition approach.

Authors:  Atsuhiko Handa; Ulrika Voss; Anna Hammarsjö; Giedre Grigelioniene; Gen Nishimura
Journal:  Jpn J Radiol       Date:  2020-01-21       Impact factor: 2.374

9.  WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Authors:  Céline Huber; Sulin Wu; Ashley S Kim; Sabine Sigaudy; Anna Sarukhanov; Valérie Serre; Genevieve Baujat; Kim-Hanh Le Quan Sang; David L Rimoin; Daniel H Cohn; Arnold Munnich; Deborah Krakow; Valérie Cormier-Daire
Journal:  Am J Hum Genet       Date:  2013-10-31       Impact factor: 11.025

10.  Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings.

Authors:  Miroslava Brndiarova; Martin Mraz; Zuzana Kolkova; Frantisek Cisarik; Peter Banovcin
Journal:  Mol Syndromol       Date:  2021-06-16
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.