title: Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.
abstract: BACKGROUND
  Pierpont syndrome was first described in 1998 with key characteristics including developmental delay, dysmorphic facial features, fat pads on hands and feet, and feeding difficulties. To date the mechanism of inheritance is unknown. Nine out of ten previously described patients with Pierpont syndrome were boys. This is the first report of a case of a non-white patient with Pierpont syndrome and she is the second female patient to be described as having Pierpont syndrome.
  
  
  METHODS
  Our patient is a 16-month-old Hispanic girl with extreme developmental delay, microcephaly, large ears, short and thick upper lip, broad philtrum, widely spaced teeth, constipation, dysphagia, fat pads on feet and hands, autistic behavior and seizure-like episodes. She had a normal karyotype (46,XX), and array testing showed greater than 8 % homozygosity with otherwise normal results. Genes within these areas of homozygosity may provide clues to an etiology and suggest autosomal recessive inheritance. This case report highlights the possibility of ethnic variations in this syndrome's presentation, which may have ramifications in uncovering the pathogenesis as well as expanding the phenotype.
  
  
  CONCLUSIONS
  Pierpont syndrome should be considered in the evaluation of children with the described features, regardless of their gender and ethnicity.
authors: Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA. siobhanokeefe2@gmail.com.
authors: Siobhán
authors: S
authors: O'Keefe
authors: Vidant Duplin Hospital, 401 N Main St, Suite C-9, Kenansville, NC, 28349, USA.
authors: Dieter T
authors: DT
authors: Wefuan
authors: Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.
authors: Jennifer B
authors: JB
authors: Humberson
authors: Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA.
authors: Karen
authors: K
authors: Schmidt
authors: Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA.
authors: John
authors: J
authors: Wiley
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D019066:Facies; D005260:Female; D006630:Hispanic or Latino / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000175:diagnosis* / Q000235:genetics*
keywords: Case report; Developmental delay; Excess plantar skin; Increased homozygosity; Large ears; Pierpont syndrome; Plantar lipomatosis; Prominent digit pads; Supernumerary nipples; Widely spaced teeth