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(facial lipoatrophy syndrome)
437 results
  • Expansion of phenotype of DDX3X syndrome: six new cases. [Journal Article]
    Clin Dysmorphol 2019; 28(4):169-174Beal B, Hayes I, … Goel H
  • Pathogenic variants in DDX3X have recently been identified to be a relatively common cause of intellectual disability in females. In this study, we describe six female probands, from five unrelated families, with five novel heterozygous variants in DDX3X, and the identification of potential germline mosaicism. Consistent features between this cohort and previously described cases include developm…
  • AN UNUSUAL CASE OF ACQUIRED PARTIAL LIPODYSTROPHY PRESENTING WITH ACANTHOSIS NIGRICANS. [Journal Article]
    Acta Endocrinol (Buchar) 2019 Jan-Mar; -5(1):129-130Ozdemir Kutbay N, Sarer Yurekli B, … Akinci B
  • About 250 patients with acquired partial lipodystrophy (Barraquer-Simons) syndrome have been reported so far. It is characterized by the loss of adipose tissue from the face and upper extremities, and accumulated fat in the rest of the body. The disease usually starts in females during childhood or adolescence, and usually after a febrile illness. Fat loss often comes into view in months or years…
  • Pseudoacromegaly. [Review]
    Front Neuroendocrinol 2019; 52:113-143Marques P, Korbonits M
  • Individuals with acromegaloid physical appearance or tall stature may be referred to endocrinologists to exclude growth hormone (GH) excess. While some of these subjects could be healthy individuals with normal variants of growth or physical traits, others will have acromegaly or pituitary gigantism, which are, in general, straightforward diagnoses upon assessment of the GH/IGF-1 axis. However, s…
  • Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. [Journal Article]
    Am J Hum Genet 2018; 103(6):968-975Wambach JA, Wegner DJ, … Garg A
  • Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome, is a rare disorder of unknown etiology. It has been proposed to be autosomal-recessive and is characterized by variable clinical features, such as intrauterine growth restriction and poor postnatal weight gain, characteristic facial features (triangular appearance to the face, convex nasal profile or pinched nose, …
  • Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. [Journal Article]
    J Med Genet 2018; 55(12):837-846Paolacci S, Li Y, … Hennekam RC
  • CONCLUSIONS: Biallelic mutations in POLR3A, which encodes for the largest subunit of the DNA-dependent RNA polymerase III, underlie WRS. No isolated functional sites in POLR3A explain the phenotype variability in POLR3A-related disorders. We suggest that specific combinations of compound heterozygous variants must be present to cause the WRS phenotype. Our findings expand the molecular mechanisms contributing to progeroid disorders.
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