Literature DB >> 6638067

AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations.

M Pinheiro, N Freire-Maia, E A Chautard-Freire-Maia, L M Araujo, B Liberman.   

Abstract

A daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies. Her sister, dead at 1 1/2 years, had had some manifestations of the condition; seven sibs are normal. It is more likely that the whole clinical picture represents a single syndrome rather than homozygosity of different autosomal-recessive genes.

Entities:  

Mesh:

Year:  1983        PMID: 6638067     DOI: 10.1002/ajmg.1320160106

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

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Review 2.  Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities.

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3.  Oculotrichodysplasia (OTD): a new probably autosomal recessive condition.

Authors:  L Cecatto-De-Lima; M Pinheiro; N Freire-Maia
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

Review 4.  Isolated Absent Thelarche in a Patient With Neurofibromatosis Type 1 and Acromegaly.

Authors:  Anne E Martini; Jessica R Zolton; Alan H DeCherney
Journal:  Obstet Gynecol       Date:  2018-01       Impact factor: 7.661

5.  Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

Authors:  D Soekarman; J P Fryns
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

6.  Hyperlipidemia and cutaneous abnormalities in transgenic mice overexpressing human apolipoprotein C1.

Authors:  M C Jong; M J Gijbels; V E Dahlmans; P J Gorp; S J Koopman; M Ponec; M H Hofker; L M Havekes
Journal:  J Clin Invest       Date:  1998-01-01       Impact factor: 14.808

7.  Congenital amastia.

Authors:  Lingaraja Gowda C Patil; Niranjan Hunasanhalli Shivanna; Naveen Benakappa; Hema Ravindranath; Rama Bhat
Journal:  Indian J Pediatr       Date:  2012-12-20       Impact factor: 1.967

Review 8.  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

9.  Short stature in child with early-onset diabetes.

Authors:  C P Hawkes; S M McGlacken-Byrne; N P Murphy
Journal:  Eur J Pediatr       Date:  2013-05-05       Impact factor: 3.183

  9 in total

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