Literature DB >> 999326

Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period.

D M Danks, R Haslam, V Mayne, H J Kaufmann, P G Holtzapple.   

Abstract

Two pairs of brothers suffered respiratory distress in the newborn period because their ribs were abnormally short. The diagnostic radiological features of metaphyseal chondrodysplasia appeared only in the second year. Pancreatic insufficiency and neutropenia were present. One died of overwhelming infection and his brother survived a life-threatening episode of gangrenous proctitis.

Entities:  

Mesh：

Year:  1976        PMID： 999326      PMCID： PMC1546253          DOI： 10.1136/adc.51.9.697

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  8 in total

1.  CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

Authors:  M BODIAN; W SHELDON; R LIGHTWOOD
Journal:  Acta Paediatr       Date:  1964-05       Impact factor: 2.299

2.  THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

Authors:  H SHWACHMAN; L K DIAMOND; F A OSKI; K T KHAW
Journal:  J Pediatr       Date:  1964-11       Impact factor: 4.406

3.  [Asphyxiating thoracic dystrophy with familial characteristics].

Authors:  M JEUNE; C BERAUD; R CARRON
Journal:  Arch Fr Pediatr       Date:  1955

4.  Jeune thoracic dysplasia--a spectrum of disorders?

Authors:  H J Kaufmann; J A Kirkpatrick
Journal:  Birth Defects Orig Artic Ser       Date:  1974

5.  Difficulties in differentiation between chondroectodermal dysplasia (Ellis--van Creveld syndrome) and asphyxiating thoracic dystrophy.

Authors:  K Kozlowski; C Szmigiel; A Barylak; M Stopyrowa
Journal:  Australas Radiol       Date:  1972-12

6.  Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

Authors:  M Karjoo; C E Koop; D Cornfeld; P G Holtzapple
Journal:  Arch Dis Child       Date:  1973-02       Impact factor: 3.791

7.  The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism.

Authors:  D H Shmerling; A Prader; W H Hitzig; A Giedion; B Hadorn; M Kühni
Journal:  Helv Paediatr Acta       Date:  1969-12

8.  Association of pancreatic insufficiency and chronic neutropenia in childhood.

Authors:  V Burke; J H Colebatch; C M Anderson; M J Simons
Journal:  Arch Dis Child       Date:  1967-04       Impact factor: 3.791
  8 in total
  7 in total

1.  A previously undescribed syndrome of thoracic dysplasia and communicating hydrocephalus in two sibs, one diagnosed prenatally by ultrasound.

Authors:  R M Winter; S Campbell; J S Wigglesworth; E J Nevrkla
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

2.  Thoracic-pelvic dysostosis: a 'new' autosomal dominant form.

Authors:  A Bankier; D M Danks
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

3.  The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.

Authors:  Gen Nishimura; Eiji Nakashima; Yuichiro Hirose; Trevor Cole; Phillip Cox; Daniel H Cohn; David L Rimoin; Ralph S Lachman; Yoshinari Miyamoto; Bronwyn Kerr; Sheila Unger; Hirofumi Ohashi; Andrea Superti-Furga; Shiro Ikegawa
Journal:  J Med Genet       Date:  2007-04       Impact factor: 6.318

4.  Thoracic Hypoplasia at Birth as Presenting Feature of Shwachman-Diamond Syndrome in Twins.

Authors:  Letizia Capasso; Angela Carla Borrelli; Julia Cerullo; Maria Rosaria Pirozzi; Francesco Raimondi
Journal:  J Pediatr Genet       Date:  2016-05-30

Review 5.  Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.

Authors:  Lauri Burroughs; Ann Woolfrey; Akiko Shimamura
Journal:  Hematol Oncol Clin North Am       Date:  2009-04       Impact factor: 3.722

6.  Shwachman's syndrome. A review of 21 cases.

Authors:  P J Aggett; N P Cavanagh; D J Matthew; J R Pincott; J Sutcliffe; J T Harries
Journal:  Arch Dis Child       Date:  1980-05       Impact factor: 3.791

7.  Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome).

Authors:  Steven J Keogh; Shane McKee; Sarah F Smithson; David Grier; Colin G Steward
Journal:  BMC Pediatr       Date:  2012-05-03       Impact factor: 2.125
  7 in total

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