Literature DB >> 573203

Corneal clouding, subvalvular aortic stenosis, and midfacial hypoplasia associated with mental deficiency and growth retardation--a new syndrome?

J P Fryns, H Van den Berghe.   

Abstract

Two siblings, a 17 year-old female and a 15 year-old boy, with a hitherto unidentified malformation syndrome are reported. Both presented with corneal clouding, subvalvular aortic stenosis, midfacial hypoplasia, skeletal anomalies, and a variable degree of growth- and mental retardation.

Entities:  

Mesh：

Year:  1979        PMID： 573203     DOI： 10.1007/bf00538941

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  5 in total

1.  The occurrence of congenital keratoconus posticus circumscriptus in two siblings presenting a previously unrecognized syndrome.

Authors:  W P HANEY; H F FALLS
Journal:  Am J Ophthalmol       Date:  1961-07       Impact factor: 5.258

2.  Discrete subvalvular aortic stenosis in childhood. Study of 51 patients.

Authors:  E A Newfeld; A J Muster; M H Paul; F S Idriss; W L Riker
Journal:  Am J Cardiol       Date:  1976-07       Impact factor: 2.778

3.  A new oculocerebral syndrome with hypopigmentation.

Authors:  H E Cross; V A McKusick; W Breen
Journal:  J Pediatr       Date:  1967-03       Impact factor: 4.406

4.  A syndrome characterized by corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation.

Authors:  C Mietens; H Weber
Journal:  J Pediatr       Date:  1966-10       Impact factor: 4.406

5.  Familial prevalence of asymmetric septal hypertrophy.

Authors:  W G van Dorp; F J ten Cate; W B Vletter; H Dohmen; J Roelandt
Journal:  Eur J Cardiol       Date:  1976-09
  5 in total
  4 in total

1.  Primary mesodermal dysgenesis of the cornea (Peters' anomaly) in two brothers.

Authors:  M Boel; J Timmermans; L Emmery; G Dralands; J P Fryns; H Van den Berghe
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132

2.  Familial occurrence of discrete subaortic membrane.

Authors:  H Abdallah; K Toomey; A C O'Riordan; A Davidson; L A Marks
Journal:  Pediatr Cardiol       Date:  1994 Jul-Aug       Impact factor: 1.655

3.  Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs.

Authors:  I D Young; W G Macrae; H E Hughes; J S Crawford
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

4.  Discrete subaortic stenosis as part of a short stature syndrome.

Authors:  A Onat; T Onat; N Domaniç
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  4 in total

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