A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy

Clin Dysmorphol. 2002 Oct;11(4):255-60. doi: 10.1097/00019605-200210000-00005.

Abstract

We present the case of a 3-year-old boy with post-natal growth failure, microcephaly, developmental delay, facial dysmorphism, an evolving pigmentary retinopathy, pituitary hypoplasia, micropenis, and growth hormone (GH) deficiency. He has a microcephalic osteodysplastic slender-bone disorder with disharmonic delayed osseous maturation, most closely resembling patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II). Intrauterine growth retardation, a universal finding in the MOPD II, was absent in our patient.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Bone Diseases, Developmental / pathology*
  • Child, Preschool
  • Human Growth Hormone / deficiency*
  • Humans
  • Hypopituitarism / pathology
  • Male
  • Microcephaly / pathology*
  • Penis / abnormalities
  • Retinitis Pigmentosa / pathology*
  • Scrotum / abnormalities

Substances

  • Human Growth Hormone