Literature DB >> 381161

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

J P Fryns, F Moerman, P Goddeeris, C Bossuyt, H Van den Berghe.   

Abstract

Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb deformities.

Entities:  

Mesh：

Year:  1979        PMID： 381161     DOI： 10.1007/bf00295591

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  16 in total

1.  HEREDITARY GINGIVAL FIBROMATOSIS. REPORT OF AN AFFECTED FAMILY WITH ASSOCIATED SPLENOMEGALY AND SKELETAL AND SOFT-TISSUE ABNORMALITIES.

Authors:  P F LABAND; G HABIB; G S HUMPHREYS
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1964-03

2.  Masklike facies with associated congenital anomalies (mōbius syndrome); report of three cases.

Authors:  A NISENSON; A ISAACSON; S GRANT
Journal:  J Pediatr       Date:  1955-03       Impact factor: 4.406

3.  Ankyloglossia superior (palato-glossal adhesion in the newborn infant).

Authors:  R A WILSON; M R KLIMAN; A F HARDYMENT
Journal:  Pediatrics       Date:  1963-06       Impact factor: 7.124

4.  Anonychia with ectrodactyly: clinical and linkage data.

Authors:  D H LEES; S D LAWLER; J H RENWICK; J M THODAY
Journal:  Ann Hum Genet       Date:  1957-10       Impact factor: 1.670

5.  On three peculiar cases of Molluscum Fibrosum in Children in which one or more of the following conditions were observed: hypertrophy of the gums, enlargement of the ends of the fingers and toes, numerous connecive-tissue tumours on the scalp, &c.

Authors:  J Murray
Journal:  Med Chir Trans       Date:  1873

Review 6.  "Newer" facial clefting syndromes.

Authors:  R J Gorlin; J Cervenka; M M Cohen
Journal:  Birth Defects Orig Artic Ser       Date:  1977

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

Authors:  S D Pena; M H Shokeir
Journal:  J Pediatr       Date:  1974-09       Impact factor: 4.406

8.  Maternal epilepsy and abnormalities of the fetus and newborn.

Authors:  B D Speidel; S R Meadow
Journal:  Lancet       Date:  1972-10-21       Impact factor: 79.321

9.  [Familial agenesis of the diaphragm].

Authors:  M Jensen; H C Altrogge
Journal:  Monatsschr Kinderheilkd       Date:  1971-11

10.  Occupational acroosteolysis. Report of 31 cases.

Authors:  R H Wilson; W E McCormick; C F Tatum; J L Creech
Journal:  JAMA       Date:  1967-08-21       Impact factor: 56.272
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  17 in total

1.  Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case.

Authors:  Kohei Otake; Keiichi Uchida; Mikihiro Inoue; Yuhki Koike; Kohei Matsushita; Chikao Miki; Takashi Sugiyama; Masato Kusunoki
Journal:  Pediatr Surg Int       Date:  2009-07-24       Impact factor: 1.827

2.  Tissue distribution and functional analysis of Sushi domain-containing protein 4.

Authors:  Zhidan Tu; Mark Cohen; Hong Bu; Feng Lin
Journal:  Am J Pathol       Date:  2010-03-26       Impact factor: 4.307

3.  Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.

Authors:  J P Fryns
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

4.  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

5.  A case of Fryns syndrome.

Authors:  I D Young; K Simpson; R M Winter
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

6.  Congenital diaphragmatic hernia: influence of associated malformations on survival.

Authors:  P M Jones
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1994-03       Impact factor: 5.747

7.  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

8.  Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

Authors:  M Klaassens; M van Dooren; H J Eussen; H Douben; A T den Dekker; C Lee; P K Donahoe; R J Galjaard; N Goemaere; R R de Krijger; C Wouters; J Wauters; B A Oostra; D Tibboel; A de Klein
Journal:  Am J Hum Genet       Date:  2005-03-04       Impact factor: 11.025

9.  Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

Authors:  Melissa A Parisi; Hatem Zayed; Anne M Slavotinek; Joe C Rutledge
Journal:  Am J Med Genet A       Date:  2009-06       Impact factor: 2.802

10.  Two fetuses with Fryns syndrome without diaphragmatic defects.

Authors:  K K Wilgenbus; R Engers; G Crombach; F Majewski
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318
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