Literature DB >> 2751762

Holoprosencephaly: variation of expression in face and brain in three sibs.

C P Zwetsloot1, O F Brouwer, P D Maaswinkel-Mooy.   

Abstract

A family is described containing three sibs with holoprosencephaly. They showed a striking diversity of both cerebral and facial abnormalities. Autosomal recessive inheritance seems most likely. Because of the great variety in expression of this disorder, it is of importance for genetic counselling to examine both sibs and parents.

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Year:  1989        PMID： 2751762      PMCID： PMC1017303          DOI： 10.1136/jmg.26.4.274

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


  5 in total

1.  FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES.

Authors:  W DEMYER; W ZEMAN; C D PALMER
Journal:  Neurology       Date:  1963-11       Impact factor: 9.910

2.  Familial holoprosencephaly with endocrine dysgenesis.

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

3.  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

4.  An update on the holoprosencephalic disorders.

Authors:  M M Cohen
Journal:  J Pediatr       Date:  1982-11       Impact factor: 4.406

5.  Holoprosencephaly and facial dysmorphia: nosology, etiology and pathogenesis.

Authors:  M M Cohen; J E Jirásek; R T Guzman; R J Gorlin; M Q Peterson
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06
  5 in total
  2 in total

1.  The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Authors:  Aimée D C Paulussen; Constance T Schrander-Stumpel; Demis C J Tserpelis; Matteus K M Spee; Alexander P A Stegmann; Grazia M Mancini; Alice S Brooks; Margriet Collée; Anneke Maat-Kievit; Marleen E H Simon; Yolande van Bever; Irene Stolte-Dijkstra; Wilhelmina S Kerstjens-Frederikse; Johanna C Herkert; Anthonie J van Essen; Klaske D Lichtenbelt; Arie van Haeringen; Mei L Kwee; Augusta M A Lachmeijer; Gita M B Tan-Sindhunata; Merel C van Maarle; Yvonne H J M Arens; Eric E J G L Smeets; Christine E de Die-Smulders; John J M Engelen; Hubertus J Smeets; Jos Herbergs
Journal:  Eur J Hum Genet       Date:  2010-06-09       Impact factor: 4.246

2.  Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Authors:  F Lacbawan; B D Solomon; E Roessler; K El-Jaick; S Domené; J I Vélez; N Zhou; D Hadley; J Z Balog; R Long; A Fryer; W Smith; S Omar; S D McLean; K Clarkson; A Lichty; N J Clegg; M R Delgado; E Levey; E Stashinko; L Potocki; M I Vanallen; J Clayton-Smith; D Donnai; D W Bianchi; P B Juliusson; P R Njølstad; H G Brunner; J C Carey; U Hehr; J Müsebeck; P F Wieacker; A Postra; R C M Hennekam; M-J H van den Boogaard; A van Haeringen; A Paulussen; J Herbergs; C T R M Schrander-Stumpel; A R Janecke; D Chitayat; J Hahn; D M McDonald-McGinn; E H Zackai; W B Dobyns; M Muenke
Journal:  J Med Genet       Date:  2009-04-02       Impact factor: 6.318
  2 in total

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