Literature DB >> 2918525

Congenital hypothyroidism, spiky hair, and cleft palate.

J S Bamforth1, I A Hughes, J H Lazarus, C M Weaver, P S Harper.   

Abstract

Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the third trimester of each pregnancy. These abnormalities appear to represent a new syndrome.

Entities:  

Mesh：

Year:  1989        PMID： 2918525      PMCID： PMC1015536          DOI： 10.1136/jmg.26.1.49

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


  4 in total

1.  Palmar ridge appearances in normal newborn infants and ridge appearance in relation to eccrine sweating.

Authors:  J Verbov
Journal:  Br J Dermatol       Date:  1975-12       Impact factor: 9.302

2.  A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.

Authors:  A Johanson; R Blizzard
Journal:  J Pediatr       Date:  1971-12       Impact factor: 4.406

3.  A distinctive type of hypohidrotic ectodermal dysplasia featuring hypothyroidism.

Authors:  M G Pike; M Baraitser; R Dinwiddie; D J Atherton
Journal:  J Pediatr       Date:  1986-01       Impact factor: 4.406

4.  Hypohidrotic ectodermal dysplasia with hypothyroidism.

Authors:  H F Pabst; O Groth; E E McCoy
Journal:  J Pediatr       Date:  1981-02       Impact factor: 4.406
  4 in total
  17 in total

Review 1.  Detection and treatment of congenital hypothyroidism.

Authors:  Annette Grüters; Heiko Krude
Journal:  Nat Rev Endocrinol       Date:  2011-10-18       Impact factor: 43.330

Review 2.  Genetics of cleft lip and cleft palate.

Authors:  Elizabeth J Leslie; Mary L Marazita
Journal:  Am J Med Genet C Semin Med Genet       Date:  2013-10-04       Impact factor: 3.908

Review 3.  The molecular causes of thyroid dysgenesis: a systematic review.

Authors:  I C Nettore; V Cacace; C De Fusco; A Colao; P E Macchia
Journal:  J Endocrinol Invest       Date:  2013-05-22       Impact factor: 4.256

Review 4.  Defects of Thyroid Hormone Synthesis and Action.

Authors:  Zeina C Hannoush; Roy E Weiss
Journal:  Endocrinol Metab Clin North Am       Date:  2017-03-06       Impact factor: 4.741

5.  Role for tissue-dependent methylation differences in the expression of FOXE1 in nontumoral thyroid glands.

Authors:  Rasha Abu-Khudir; Fabien Magne; Jean-Pierre Chanoine; Cheri Deal; Guy Van Vliet; Johnny Deladoëy
Journal:  J Clin Endocrinol Metab       Date:  2014-03-19       Impact factor: 5.958

Review 6.  Genetics of congenital hypothyroidism.

Authors:  S M Park; V K K Chatterjee
Journal:  J Med Genet       Date:  2005-05       Impact factor: 6.318

7.  TRANSCRIPTION FACTOR GLI-SIMILAR 3 (GLIS3): IMPLICATIONS FOR THE DEVELOPMENT OF CONGENITAL HYPOTHYROIDISM.

Authors:  Kristin Lichti-Kaiser; Gary ZeRuth; Anton M Jetten
Journal:  J Endocrinol Diabetes Obes       Date:  2014-04

8.  Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate.

Authors:  Steven F Miller; Seth M Weinberg; Nichole L Nidey; David K Defay; Mary L Marazita; George L Wehby; Lina M Moreno Uribe
Journal:  J Anat       Date:  2014-04-16       Impact factor: 2.610

9.  Ultrasonographic localization of the thyroid gland for its optimal shielding prior to lateral cephalometric radiography: a pilot study.

Authors:  Elmira Pakbaznejad Esmaeili; Kirsti Hurmerinta; David Rice; Anni Suomalainen
Journal:  Dentomaxillofac Radiol       Date:  2016-02-03       Impact factor: 2.419

Review 10.  Genetics of primary congenital hypothyroidism-a review.

Authors:  Eirini Kostopoulou; Konstantinos Miliordos; Bessie Spiliotis
Journal:  Hormones (Athens)       Date:  2021-01-05       Impact factor: 2.885
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