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Literature DB >> 1865466

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

A Verloes¹, S Aymé, D Gambarelli, M Gonzales, M Le Merrer, N Mulliez, N Philip, J Roume.

Abstract

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.

Entities: Disease Species

Mesh：

Year: 1991 PMID： 1865466 PMCID： PMC1016846 DOI： 10.1136/jmg.28.5.297

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

28 in total

1. Hydrolethalus syndrome.

Authors: R Salonen; R Herva
Journal: J Med Genet Date: 1990-12 Impact factor: 6.318

Review 2. Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly.

Authors: M Münke
Journal: Am J Med Genet Date: 1989-10

Review 3. Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities.

Authors: M M Cohen
Journal: Am J Med Genet Date: 1989-10

Review 4. Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology.

Authors: M M Cohen
Journal: Teratology Date: 1989-09

5. Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome.

Authors: P D Pallister; F Hecht; J Herrman
Journal: Am J Med Genet Date: 1989-08

6. Holoprosencephaly and postaxial polydactyly: another observation.

Authors: P Moerman; J P Fryns
Journal: J Med Genet Date: 1988-07 Impact factor: 6.318

7. 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

8. Holoprosencephaly: a developmental field defect.

Authors: V P Johnson
Journal: Am J Med Genet Date: 1989-10

Review 9. Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome.

Authors: M L Merrer; M L Briard; S Girard; N Mulliez; C Moraine; M C Imbert
Journal: J Med Genet Date: 1988-02 Impact factor: 6.318

Review 10. Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).

Authors: K Iafolla; J D Fratkin; P K Spiegel; M M Cohen; J M Graham
Journal: Am J Med Genet Date: 1989-08

6 in total

Review 1. Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.

Authors: Sophia M Bous; Benjamin D Solomon; Luitgard Graul-Neumann; Heidemarie Neitzel; Emily E Hardisty; Maximilian Muenke
Journal: Clin Dysmorphol Date: 2012-10 Impact factor: 0.816

Review 2. The Smith-Lemli-Opitz syndrome.

Authors: R I Kelley; R C Hennekam
Journal: J Med Genet Date: 2000-05 Impact factor: 6.318