Literature DB >> 10588106

Pallister-Hall syndrome: clinical and MR features.

J S Kuo1, S O Casey, L Thompson, C L Truwit.   

Abstract

A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of Pallister-Hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the patient, and he was developing appropriately. Although rare, this entity is important to recognize not only for clinical diagnosis but also for appropriate management and genetic counseling.

Entities:  

Mesh:

Year:  1999        PMID: 10588106      PMCID: PMC7657771     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN: 0195-6108            Impact factor:   3.825


  10 in total

1.  Pallister-Hall syndrome.

Authors:  L G Biesecker; J M Graham
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

Authors:  S Kang; J Allen; J M Graham; T Grebe; C Clericuzio; N Patronas; F Ondrey; E Green; A Schäffer; M Abbott; L G Biesecker
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.

Authors:  S Kang; J M Graham; A H Olney; L G Biesecker
Journal:  Nat Genet       Date:  1997-03       Impact factor: 38.330

4.  Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity?

Authors:  T A Grebe; C Clericuzio
Journal:  Am J Med Genet       Date:  1996-12-11

5.  Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Authors:  A Verloes; A David; L Ngô; A Bottani
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

6.  Hypothalamic hamartoma and the Pallister-Hall syndrome.

Authors:  L A Squires; S Constantini; D C Miller; J H Wisoff
Journal:  Pediatr Neurosurg       Date:  1995       Impact factor: 1.162

Review 7.  Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome.

Authors:  M Löw; J R Moringlane; J Reif; D Barbier; G Beige; H Kolles; C Kujat; K D Zang; W Henn
Journal:  Clin Genet       Date:  1995-10       Impact factor: 4.438

8.  Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.

Authors:  J G Hall; P D Pallister; S K Clarren; J B Beckwith; F W Wiglesworth; F C Fraser; S Cho; P J Benke; S D Reed
Journal:  Am J Med Genet       Date:  1980

9.  Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations.

Authors:  S K Clarren; E C Alvord; J G Hall
Journal:  Am J Med Genet       Date:  1980

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
  10 in total
  11 in total

Review 1.  Pediatric sellar and suprasellar lesions.

Authors:  Jason W Schroeder; L Gilbert Vezina
Journal:  Pediatr Radiol       Date:  2011-01-26

2.  Teaching neuroImages: short stature, imperforate anus, and polydactyly: When is a hypothalamic mass an incidentaloma?

Authors:  Oana Dumitrascu; Patrick Lyden; Moise Danielpour; Franklin Moser
Journal:  Neurology       Date:  2015-04-14       Impact factor: 9.910

Review 3.  Imaging of fetal brain tumors.

Authors:  Patricia Cornejo; Tamara Feygin; Jennifer Vaughn; Cory M Pfeifer; Alexandra Korostyshevska; Mittun Patel; Dianna M E Bardo; Jeffrey Miller; Luis F Goncalves
Journal:  Pediatr Radiol       Date:  2020-11-30

4.  The Pleiotropic Intricacies of Hedgehog Signaling: From Craniofacial Patterning to Carcinogenesis.

Authors:  Mikhail Pakvasa; Andrew B Tucker; Timothy Shen; Tong-Chuan He; Russell R Reid
Journal:  FACE (Thousand Oaks)       Date:  2021-06-18

5.  Congenital Bilateral Saccular Cysts and Bifid Epiglottis: Presentation and Management.

Authors:  Rawan Arif; Talal Al-Khatib; Razan Daghistani; Maher Shalabi
Journal:  Indian J Otolaryngol Head Neck Surg       Date:  2015-12-19

Review 6.  [Supratentorial tumors].

Authors:  I Grunwald; K Dillmann; C Roth; M Backens; W Reith
Journal:  Radiologe       Date:  2007-06       Impact factor: 0.635

7.  Congenital anomalies of kidney and hand: a review.

Authors:  Gopalakrishnan Natarajan; Dhanapriya Jeyachandran; Bala Subramaniyan; Dineshkumar Thanigachalam; Arul Rajagopalan
Journal:  Clin Kidney J       Date:  2013-02-03

8.  Pre- and postnatal MR imaging of an asymptomatic giant hypothalamic hamartoma.

Authors:  Alberto Cristobal; Gregory Vorona; Ann Ritter; Susan Lanni; Jacqueline Urbine
Journal:  Radiol Case Rep       Date:  2020-06-16

9.  A review of hedgehog signaling in cranial bone development.

Authors:  Angel Pan; Le Chang; Alan Nguyen; Aaron W James
Journal:  Front Physiol       Date:  2013-04-02       Impact factor: 4.566

Review 10.  GLI3: a mediator of genetic diseases, development and cancer.

Authors:  Stephan J Matissek; Sherine F Elsawa
Journal:  Cell Commun Signal       Date:  2020-04-03       Impact factor: 7.525

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