Literature DB >> 9610812

Unknown syndrome: peculiar face, severe hypodontia of permanent teeth, and precocious choroid calcifications.

R Pallotta1, P Fusilli.   

Abstract

We describe a mother and her twin daughters affected with severe hypodontia of the permanent teeth, precocious calcification of the choroid plexus, and minor digital anomalies. The presence of inner telecanthus, broad and flattened nasal bridge, mild ocular proptosis, small nose with anteverted nostrils, and slight microretrognathia gives them an unusual appearance. All three affected persons are of normal intelligence.

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Year:  1998        PMID: 9610812      PMCID: PMC1051323          DOI: 10.1136/jmg.35.5.435

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


  11 in total

1.  Genetic analysis of dermatoglyphic patterns in twins.

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Journal:  Hum Hered       Date:  1975       Impact factor: 0.444

2.  [Lipoid proteinosis in 2 sisters].

Authors:  G Oezarmağan; C Baykal; E O Gürsoy; S Yilmazer; N Büyükbabani; O Coban
Journal:  Hautarzt       Date:  1993-05       Impact factor: 0.751

3.  Comparative diagnoses of twin zygosity by SSLP variant analysis, questionnaire, and dermatoglyphic analysis.

Authors:  E Spitz; R Moutier; T Reed; M C Busnel; C Marchaland; P L Roubertoux; M Carlier
Journal:  Behav Genet       Date:  1996-01       Impact factor: 2.805

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Authors:  C J Witkop
Journal:  Am J Med Genet       Date:  1987-02

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Authors:  D T Lykken
Journal:  Behav Genet       Date:  1978-09       Impact factor: 2.805

6.  Complete absence of the permanent dentition: an autosomal recessive disorder.

Authors:  C S Bartsocas
Journal:  Am J Med Genet       Date:  1980

7.  Dermatoglyphics in von Recklinghausen neurofibromatosis.

Authors:  R Pallotta; G Carlone; A Petrucci; F Chiarelli
Journal:  Am J Med Genet       Date:  1989-10

8.  Choroido-cerebral calcification syndrome with retardation.

Authors:  B Singh; A Jamil; S A al-Shahwan; H Sharif; S M al-Deeb; N Biary
Journal:  Neurology       Date:  1993-11       Impact factor: 9.910

9.  Calcification of the choroid plexus visualized by computed tomography.

Authors:  M T Modic; M A Weinstein; A D Rothner; G Erenberg; P M Duchesneau; B Kaufman
Journal:  Radiology       Date:  1980-05       Impact factor: 11.105

10.  Intracerebral bilateral symmetrical calcifications, demonstrated in a patient with pseudohypoparathyroidism.

Authors:  L Smit; R M van Wijk; R E Rico; A D Sitalsing
Journal:  Clin Neurol Neurosurg       Date:  1988       Impact factor: 1.876

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  1 in total

Review 1.  Concepts for the treatment of adolescent patients with missing permanent teeth.

Authors:  M Behr; O Driemel; V Mertins; T Gerlach; C Kolbeck; N Rohr; T E Reichert; G Handel
Journal:  Oral Maxillofac Surg       Date:  2008-07
  1 in total

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