Literature DB >> 4431498

Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.

S D Pena, M H Shokeir.   

Abstract

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Year:  1974        PMID: 4431498     DOI: 10.1016/s0022-3476(74)80119-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  22 in total

1.  Spinal muscle atrophy type 1 (Werdnig-Hoffman disease) with complex cardiac malformation.

Authors:  Wael El-Matary; Sunanda Kotagiri; Duncan Cameron; Ian Peart
Journal:  Eur J Pediatr       Date:  2004-06       Impact factor: 3.183

2.  Lethal Pena-Shokeir 1 syndrome in three male siblings.

Authors:  T Gyr; M Katz; H J Altermatt; S Braga; P Duerig; C Koenig; H Schneider
Journal:  Arch Gynecol Obstet       Date:  1992       Impact factor: 2.344

3.  Disturbances in neuronal migration and laminar cortical organization associated with multicystic encephalopathy in the Pena-Shokeir syndrome.

Authors:  B H Choi; W R Ruess; R C Kim
Journal:  Acta Neuropathol       Date:  1986       Impact factor: 17.088

4.  A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.

Authors:  J P Fryns; F Moerman; P Goddeeris; C Bossuyt; H Van den Berghe
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

5.  Pathologic features in two siblings with the Pena-Shokeir I syndrome.

Authors:  M Bisceglia; L Zelante; C Bosman; R Cera; B Dallapiccola
Journal:  Eur J Pediatr       Date:  1987-05       Impact factor: 3.183

6.  Behaviour disorder in monosomy 10qter.

Authors:  L Mehta; D P Duckett; I D Young
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

7.  Anesthetic management of three pediatric cases with Pena-Shokeir syndrome.

Authors:  Shogo Tsujikawa; Ryu Okutani; Kenji Tsujii; Yutaka Oda
Journal:  J Anesth       Date:  2012-02-15       Impact factor: 2.078

8.  Lethal congenital contracture syndrome: further delineation and genetic aspects.

Authors:  K Vuopala; R Herva
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

9.  A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.

Authors:  P Fleury; G Hageman
Journal:  J Neurol Neurosurg Psychiatry       Date:  1985-10       Impact factor: 10.154

10.  Antenatal ultrasonography findings and magnetic resonance imaging in a case of Pena-Shokeir phenotype.

Authors:  Xuan-Hong Tomai; Thanh-Xuan Jasmine; Thanh-Hai Phan
Journal:  Ultrasound       Date:  2017-01-10
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