Literature DB >> 6694181

What is the incidence of holoprosencephaly?

E S Saunders, D Shortland, P M Dunn.   

Abstract

The incidence of holoprosencephaly with normal chromosomes has been estimated at between 1 in 16 000 and 1 in 53 394 live births. It has been found that during a 3-year period in the Bristol and Weston Health District there were six cases of holoprosencephaly, two of which were familial, and these cases are described. This represents an incidence of 1 in 5200 and during the preceding 3-year period the incidence in the same area was 1 in 14 520 births.

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Year:  1984        PMID： 6694181      PMCID： PMC1049201          DOI： 10.1136/jmg.21.1.21

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  16 in total

1.  THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).

Authors:  W DEMYER; W ZEMAN; C G PALMER
Journal:  Pediatrics       Date:  1964-08       Impact factor: 7.124

2.  Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature.

Authors:  P M Ming; D M Goodner; T S Park
Journal:  Am J Dis Child       Date:  1976-08

3.  Familial holoprosencephaly with endocrine dysgenesis.

Authors:  R L Hintz; M Menking; J F Sotos
Journal:  J Pediatr       Date:  1968-01       Impact factor: 4.406

4.  Congenital malformations in singletons: epidemiologic survey. Report from the Collaborative Perinatal project.

Authors:  N C Myrianthopoulos; C S Chung
Journal:  Birth Defects Orig Artic Ser       Date:  1974

5.  Genetic heterogeneity of cebocephaly.

Authors:  L B Holmes; S Driscoll; L Atkins
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318

6.  Familial holoprosencephaly with median cleft lip.

Authors:  D Godeano; S T Winter; H Dar
Journal:  J Genet Hum       Date:  1973-09

7.  Familial cebocephaly. Case description and survey of the anomaly.

Authors:  G Van Leeuwen; E James
Journal:  Clin Pediatr (Phila)       Date:  1970-08       Impact factor: 1.168

8.  Familial holoprosencephaly.

Authors:  L Dallaire; F C Fraser; F W Wiglesworth
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06

9.  Holoprosencephaly: birth data, benetic and demographic analyses of 30 families.

Authors:  E Roach; W Demyer; P M Conneally; C Palmer; A D Merritt
Journal:  Birth Defects Orig Artic Ser       Date:  1975

10.  Holoprosencephaly and endocrine dysgenesis in brothers.

Authors:  M L Begleiter; D J Harris
Journal:  Am J Med Genet       Date:  1980
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  4 in total

1.  Holoprosencephaly in the west of Scotland 1975-1994.

Authors:  M L Whiteford; J L Tolmie
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Holoprosencephaly: a family showing dominant inheritance and variable expression.

Authors:  A L Collins; P W Lunt; C Garrett; N R Dennis
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318

3.  Cyclopia: a rare condition with unusual presentation - a case report.

Authors:  Ghassan Sa Salama; Mahmoud Af Kaabneh; Mohamed K Al-Raqad; Ibrahim Mh Al-Abdallah; Ayoub Ga Shakkoury; Ruba Aa Halaseh
Journal:  Clin Med Insights Pediatr       Date:  2015-02-09

4.  Cyclopia with proboscis: A rare congenital anomaly.

Authors:  Asma Kunwar; Bibek Man Shrestha; Suraj Shrestha; Pooja Paudyal; Suniti Rawal
Journal:  Clin Case Rep       Date:  2021-07-16
  4 in total

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